ISB-CGC will be transitioning to a new version soon. Please see this page regarding existing data and accounts for the prior version of the system.

ISB-CGC Publications

  1. Sheila M. Reynolds, Michael Miller, Phyliss Lee, et al. The ISB cancer genomics cloud: A flexible cloud-based platform for cancer genomics researchopens a new tab. Cancer Research. 2017. doi: 10.1158/0008-5472.CAN-17-0617.
  2. Kawther Abdilleh, Boris Aguilar, J. Ross Thomson et al. Multi-omics data integration in the Cloud: Analysis of Statistically Significant Associations Between Clinical and Molecular Features in Breast Cancer. 2020. doi: 10.1145/3388440.3414917.
  3. Dondra Bailey, Kawther Abdilleh, Boris Aguilar, et al. Multi-omics characterization of Microtubule-actin cross linking factor 1 (MACF1) using the ISB-Cancer Genomics Cloud. 2020. doi: 10.1145/3388440.3414918.
  4. Kawther Abdilleh, Boris Aguilar, Ronald C. Taylor, et al. Large-scale Cloud-based Inference of Differential Breast Cancer-related Network Gene Between Patient Cohorts. 2020.
  5. Aguilar B, Gibbs DL, Reiss DJ, et al. A generalizable data-driven multicellular model of pancreatic ductal adenocarcinoma. 2020.
  6. Gibbs DL, Aguilar B, Thorsson V, Ratushny AV, Shmulevich I. Patient-Specific Cell Communication Networks Associate With Disease Progression in Cancer. Frontiers in Genetics. 2021;12:1489. doi:10.3389/fgene.2021.667382.
  7. Boris Aguilar, Kawther Abdilleh, George Acquaah-Mensah. A tale of two cohorts: Transcriptomics and epigenomic analysis in breast cancer. 2021.
  8. Kawther Abdilleh, Boris Aguilar, Ronald C. Taylor, et al. Multi-omics data analysis in the cloud: inference of differential breast cancer-related network hubs between TCGA patient cohorts. 2021. doi: 10.7490/f1000research.1118296.1.
  9. Plaugher D, Aguilar B, Murrugarra D. Uncovering potential interventions for pancreatic cancer patients via mathematical modeling. 2022. doi: 10.1101/2022.01.11.475711.
  10. de Andrade KC, Lee EE, Tookmanian EM, et al. The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute. 2022. doi: 10.1038/s41418-022-00976-3.
  11. Tercan B, Qin G, Kim TK, et al. SL-Cloud: A Cloud-based resource to support synthetic lethal interaction discovery. 2022. doi:10.12688/f1000research.110903.2.
  12. Wang J, Zheng J, Lee E, et al. A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer. 2023. doi:10.1002/gcc.23128.
  13. Torcivia J, Abdilleh K, Seidl F, et al. Whole Genome Variant Dataset for Enriching Studies across 18 Different Cancers. 2023. doi:10.3390/onco2020009.
  14. Pot D, Worman Z, Baumann A, et al. NCI Cancer Research Data Commons: Cloud-based Analytical Resources. Cancer Research. 2024. doi:10.1158/0008-5472.CAN-23-2657
  15. Seidl F, Hagen L, Wilson J, et al. The ISB Cancer Gateway in the Cloud (ISB-CGC): Access, explore and analyze large-scale cancer data through the Google Cloud. Cancer Research. 2024. doi:10.1158/1538-7445.AM2024-3547


  1. Bleich D, Wilson J. New Notebook Demonstrates Machine Learning in Google BigQuery Using Updated Mitelman Database. 2024.
  2. Thomson R. How to run statistics inside BigQuery. 2023.
  3. Bleich D. How the Mitelman Database Can Help You Explore Genomic Abnormalities. 2023.
  4. Bleich D. ISB-CGC Cloud Resource: Providing Researchers with Shortcuts to Data Analysis. 2022.
  5. Bleich D, Kuan A, Pot D, Ray M, Subramanian SL, Van der Auwera G. NCI’s Cloud Resources Help Tame Today’s Data Windfall. 2021.


  1. Arnon J, Zick A, Maoz M, et al Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent. Familial Cancer. 2024. doi:10.1007/s10689-024-00391-2.
  2. Awada H, Durmaz A, Kewan T, et al Context-dependent role of trisomy 6 in myelodysplastic neoplasms and acute myeloid leukemia: a multi-omics analysis. Leukemia. 2024. doi:10.1038/s41375-024-02268-w.
  3. Daifuku R, Zhang Y, Wang J, Gu Q iMN041 is an immunotherapeutic and an effective treatment in mouse xenograft models of pancreatic cancer, renal cancer and triple negative breast cancer. transl med commun. 2024. doi:10.1186/s41231-024-00161-3.
  4. Fontecha MB, Anadón MDR, Mercado Guzmán V, et al Individual and combined analysis of TP53, MDM2 and NQO1 gene variants. Ann Hematol. 2024. doi:10.1007/s00277-024-05794-w.
  5. Malcikova J, Pavlova S, Baliakas P, et al ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—2024 update. Leukemia. 2024. doi:10.1038/s41375-024-02267-x.
  6. Park JC, Kim YJ, Hwang GH, Kang CY, Bae S, Cha HJ. Enhancing genome editing in hPSCs through dual inhibition of DNA damage response and repair pathways. Nat Commun.. 2024. doi:10.1038/s41467-024-48111-9.
  7. Difilippo V Decoding Genetic Enigmas in Sarcoma. Lund University, Faculty of Medicine. 2024.
  8. Diot-Dejonghe T, Leporq B, Bouhamama A, et al Development of a Secure Web-Based Medical Imaging Analysis Platform: The AWESOMME Project. J Imaging Inform Med. 2024. doi:10.21873/cgp.20444.
  9. Heesterbeek CJ, Lenaerts L, Tjan-Heijnen VCG, et al Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy. JCO Oncol Pract. 2024. doi:10.21873/cgp.20444.
  10. Panagopoulos I, Andersen K, Gorunova L, Lobmaier I Fusion of Platelet Derived Growth Factor Receptor Alpha (PDGFRA) With Ubiquitin Specific Peptidase 8 (USP8) in a Calcified Chondroid Mesenchymal Neoplasm Harboring t(4;15)(q12;q21) as a Sole Aberration. Cancer Genomics Proteomics. 2024. doi:10.21873/cgp.20444.
  11. Rajanala SH, Ghale R, Nandakumar S, et al Quantifying Y chromosome loss in primary and metastatic prostate cancer by chromosome painting. PLoS ONE. 2024. doi:10.1371/journal.pone.0301989.
  12. Behrens YL, Pietzsch S, Antić Ž, Zhang Y, Bergmann AK The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia. Best Practice & Research Clinical Haematology. 2024. doi:10.1016/j.beha.2024.101539.
  13. Clogston JD, Crist RM, Dobrovolskaia MA, Stern ST, eds Characterization of Nanoparticles Intended for Drug Delivery. Springer US. 2024. doi:10.1007/978-1-0716-3786-9.
  14. Gagliano T, Kerschbamer E, Baccarani U, et al Changes in chromatin accessibility and transcriptional landscape induced by HDAC inhibitors in TP53 mutated patient-derived colon cancer organoids. Biomedicine & Pharmacotherapy. 2024. doi:10.1016/j.biopha.2024.116374.
  15. Hemminki K, Niazi Y, Vodickova L, Vodicka P, Försti A Genetic and environmental associations of nonspecific chromosomal aberrations. Mutagenesis. 2024. doi:10.1093/mutage/geae006.
  16. Horie S, Saito Y, Kogure Y, et al Pan-Cancer Comparative and Integrative Analyses of Driver Alterations Using Japanese and International Genomic Databases. Cancer Discovery. 2024. doi:10.1158/2159-8290.CD-23-0902.
  17. Kanaoka D, Yamada M, Yokoyama H, et al FPFT-2216, a Novel Anti-lymphoma Compound, Induces Simultaneous Degradation of IKZF1/3 and CK1α to Activate p53 and Inhibit NFκB Signaling. Cancer Research Communications. 2024. doi:10.1158/2767-9764.CRC-23-0264.
  18. Kim E, Davidsen TM, Davis-Dusenbery B, et al NCI Cancer Research Data Commons: Lessons Learned and Future State. Cancer Researchn. 2024. doi:10.1158/0008-5472.CAN-23-2730.
  19. Nzitakera A, Surwumwe JB, Ndoricyimpaye EL, et al The spectrum of TP53 mutations in Rwandan patients with gastric cancer. Genes and Environ. 2024. doi:10.1186/s41021-024-00302-y.
  20. Poscente M, Tolomeo D, Arshadi A, et al Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation. Cancer Genetics. 2024. doi:10.1016/j.cancergen.2024.03.002.
  21. Singh M, Sharma P, Bhatia P, Trehan A, Thakur R, Sreedharanunni S. Integrated analysis of transcriptome and genome variations in pediatric T cell acute lymphoblastic leukemia: data from north Indian tertiary care center. BMC Cancer. 2024. doi:10.1186/s12885-024-12063-6.
  22. Stružinská I, Hájková N, Hojný J, et al Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas. The Journal of Molecular Diagnostics. 2024. doi:10.1016/j.jmoldx.2023.12.004.
  23. Wang Z, Davidsen TM, Kuffel GR, et al NCI Cancer Research Data Commons: Resources to Share Key Cancer Data. Cancer Research. 2024. 10.1158/0008-5472.CAN-23-2468.
  24. Wen J, Chong ML Acquired Ring Chromosomes in Solid Tumors. In: Li P, Liehr T, eds.. Human Ring Chromosomes. 2024. doi:10.1007/978-3-031-47530-6_32.
  25. Akkari Y, Baughn LB, Kim A, et al Section E6.1–6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes. Genetics in Medicine. 2024. doi:10.1016/j.gim.2023.101054.
  26. Barahuie F, Dorniani D, Saifullah B, et al Tannic acid chitosan iron oxide nanocomposite for cervical cancer treatment.. Inorganic Chemistry Communications. 2024. doi:10.1016/j.inoche.2024.112160.
  27. Du M, Cai Q, Sun J, et al Aneuploid serves as a prognostic marker and favors immunosuppressive microenvironment in ovarian cancer. Journal of Ovarian Research. 2024. doi:10.1016/j.xhgg.2023.100244.
  28. Rai S, Singh MP, Sinha A, Srivastava A, Datta D, Srivastava S Unravelling a novel CTNND1-RAB6A fusion transcript: Implications in colon cancer cell migration. International Journal of Biological Macromolecules. 2024. doi:10.1016/j.ijbiomac.2024.129981.
  29. Romero-Morelos P, González-Yebra AL, Muñoz-López D, Lara-Lona E, González-Yebra B Frequencies of BCR::ABL1 Transcripts in Patients with Chronic Myeloid Leukemia: A Meta-Analysis. Genes. 2024. doi:10.3390/genes15020232.
  30. Xiao X, Trinh TX, Gerelkhuu Z, Ha E, Yoon TH Automated machine learning in nanotoxicity assessment: A comparative study of predictive model performance. Computational and Structural Biotechnology Journal. 2024. doi:10.1016/j.csbj.2024.02.003.
  31. Pinto EM, Fridman C, Figueiredo BC, et al Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. Human Genetics and Genomics Advances. 2024. doi:10.1016/j.xhgg.2023.100244.
  32. Son HJ, Lee JH. Novel Four-Way Variant Translocation, t(1;9;22;16)(q21;q34;q11.2;q24), in a Patient with Chronic Myeloid Leukemia. Diagnostics. 2024. doi:10.3390/diagnostics14030303.
  33. Sahin Y, Wang YL, Pei J, et al Multiple Genomic Alterations, Including a Novel AFF4::IRF1 Fusion Gene, in a Treatment-Refractory Blastic Plasmacytoid Dendritic-Cell Neoplasm: A Case Report and Literature Review.. International Journal of Molecular Sciences. 2024. doi:10.3390/ijms25010305.
  34. Landsburg DJ, Morrissette JJ, Nasta SD, et al TP53 mutations predict for poor outcomes in patients with newly diagnosed aggressive B-cell lymphomas in the current era.. Blood Advances. 2023. doi:10.1182/bloodadvances.2023011384.
  35. Dunsche L, Ivanisenko N, Riemann S, et al. A cytosolic mutp53(E285K) variant confers chemoresistance of malignant melanoma. Cell Death Dis.. 2023. doi:10.1038/s41419-023-06360-4.
  36. Landsburg DJ, Morrissette JJ, Nasta SD, et al. TP53 Mutations Detected By Clinical Laboratory Mutation Analysis Predict for Inferior Clinical Outcomes in Patients with Newly-Diagnosed Aggressive B Cell Lymphomas, Including Those with High-Risk Features. Blood. 2023. doi:10.1182/blood-2023-186343.
  37. Mukherjee K, Bhadaria H, Pillai S, Kumari M, Sarkar B Nano-Informatics: Studies on Nano Information Platforms and Their Application in Various Sectors. In: Sarkar B, Sonawane A, eds. Biological Applications of Nanoparticles. Springer Nature. 2023. doi:10.1007/978-981-99-3629-8_10.
  38. Payton M, Belmontes B, Hanestad K, et al Small-molecule inhibition of kinesin KIF18A reveals a mitotic vulnerability enriched in chromosomally unstable cancers. Nat Cancer. 2023. doi:10.1038/s43018-023-00699-5.
  39. Amatruda JF, Houart C, Kawakami K, Poss KD. Zebrafish: Methods and Protocols. Springer Nature. 2023. doi:10.1007/978-1-0716-3401-1.
  40. Blakemore C, Damodharan S, Puccetti D. Inv(3) Acute Myeloid Leukemia in a Young Adult and Review of the Literature. Case Reports in Oncological Medicine. 2023. doi:10.1155/2023/6628492.
  41. Difilippo V, Saba KH, Styring E, et al. Osteosarcomas with few chromosomal alterations and/or affecting adults are genetically heterogeneous. Laboratory Investigation. 2023. doi:10.1016/j.labinv.2023.100283.
  42. Dorwal P, White C, Goh AF, et al. Ependymoma-like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge. Neuropathology. 2023. doi:10.1111/neup.12952.
  43. Micheloni G, Frattini A, Donini M, et al. Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review. Genes. 2023. doi:10.3390/genes14112085.
  44. Post AR, Ho N, Rasmussen E, et al. Hypermedia-based software architecture enables Test-Driven Development. JAMIA Open. 2023. doi:10.1093/jamiaopen/ooad089.
  45. Wang L, Quine S, Frickenstein AN, et al. Exploring and Analyzing the Systemic Delivery Barriers for Nanoparticles. Advanced Functional Materials. 2023. doi:10.1002/adfm.202308446.
  46. Steinbuck MP, Cabana-Puig X, Palmer E, et al. Lymph Node Targeted AMP-peptide Vaccines Generate Functional T cell Immunity Against Mutant p53 and BRAF. Published online. 2023.
  47. Zhou Y, Cui G, Xu H, et al. Loss of TP53 cooperates with c-MET overexpression to drive hepatocarcinogenesis. Cell Death Dis. 2023. doi:10.1038/s41419-023-05958-y.
  48. . Nanopinion - ECHA. Web page. 2023.
  49. Chung YH, Ortega-Rivera OA, Volckaert BA, Jung E, Zhao Z, Steinmetz NF. Viral nanoparticle vaccines against S100A9 reduce lung tumor seeding and metastasis. Proceedings of the National Academy of Sciences. 2023. doi:10.1073/pnas.2221859120.
  50. Duan J xin, Liu F, Chang L, et al. A primary pediatric acute myelomonocytic leukemia with t(3;21)(q26;q22): A case report. Medicine. 2023. doi:10.1097/MD.0000000000035721.
  51. Soukup J, Valtr O, Brtkova J, et al. Soft tissue sarcoma with ZC3H7B::BCOR fusion in a male mimicking low-grade fibromyxoid sarcoma – A case report. Pathology - Research and Practice. 2023. doi:10.1016/j.prp.2023.154831.
  52. Yamamoto K, Kitao A, Watanabe M, et al. RUNX1 rearrangement in mature B-cell acute lymphoblastic leukemia with non-L3 morphology. Journal of Clinical and Experimental Hematopathology. 2023. doi:10.3960/jslrt.23028.
  53. Denu RA, Yang RK, Lazar AJ, et al. Clinico-genomic profiling of conventional and dedifferentiated chondrosarcomas reveals TP53 mutation to be associated with worse outcomes. Clinical Cancer Research. 2023. doi:10.1158/1078-0432.CCR-23-1703.
  54. Duncan JL, Bloomfield M, Swami N, Cimini D, Davalos RV. High-Frequency Dielectrophoresis Reveals That Distinct Bio-Electric Signatures of Colorectal Cancer Cells Depend on Ploidy and Nuclear Volume. Micromachines. 2023. doi:10.3390/mi14091723.
  55. Hoang V, Hung LH, Perez D, et al. Container Profiler: Profiling resource utilization of containerized big data pipelines. GigaScience. 2023. doi:10.1093/gigascience/giad069.
  56. Jamur V, Lisboa M, De Azambuja A, Brofman P. Case report: CD8 positive T-cell Prolymphocytic Leukemia presenting complex karyotype with a rare chromosomal abnormality der(2)t(1;2)(q21;q37) and additional signals of the genes MYC, IGH, and TP53. Hematology, Transfusion and Cell Therapy. 2023. 10.1016/j.htct.2023.07.009.
  57. Kent MR, Silvius K, Kucinski J, Calderon D, Kendall GC. Functional Genomics of Novel Rhabdomyosarcoma Fusion-Oncogenes Using Zebrafish. Springer US. 2024. doi:10.1007/978-1-0716-3401-1_2.
  58. Mansur MB, Greaves M. Convergent TP53 loss and evolvability in cancer. BMC Ecol Evo. 2023. doi:10.1186/s12862-023-02146-6.
  59. Zupan A, Salapura V, Šekoranja D, Pižem J. Subcutaneous chondromyxoid fibroma with a novel PNISR::GRM1 fusion—report of a primary soft tissue tumour without connection to an underlying bone. Virchows Arch. 2023. doi:10.1007/s00428-023-03519-4.
  60. Akyüz N, Janjetovic S, Ghandili S, et al. EBV and 1q Gains Affect Gene and miRNA Expression in Burkitt Lymphoma. Viruses. 2023. doi:10.3390/v15091808.
  61. Balla B, Tripon F, Candea M, et al. Copy Number Variations and Gene Mutations Identified by Multiplex Ligation-Dependent Probe Amplification in Romanian Chronic Lymphocytic Leukemia Patients. Journal of Personalized Medicine. 2023. doi:10.3390/jpm13081239.
  62. Furxhi I. Health and environmental safety of nanomaterials: O Data, Where Art Thou?. JNanoImpact. 2023. doi:10.1016/j.impact.2021.100378.
  63. Ma X, Mao M, He J, et al. Nanoprobe-based molecular imaging for tumor stratification. Chem Soc Rev. 2023. doi:10.1039/D3CS00063J.
  64. Mansur MB, deSouza NM, Natrajan R, et al. Evolutionary determinants of curability in cancer. Nat Ecol Evol. 2023. doi:10.1038/s41559-023-02159-w.
  65. The Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL2008 trial. 2023.
  66. Balla B, Tripon F, Candea M, et al. Copy Number Variations and Gene Mutations Identified by Multiplex Ligation-Dependent Probe Amplification in Romanian Chronic Lymphocytic Leukemia Patients. Journal of Personalized Medicine. 2023. doi:10.3390/jpm13081239.
  67. Kou SH, Li J, Tam B, et al. TP53 germline pathogenic variants in modern humans were likely originated during recent human history. NAR Cancer. 2023. doi:10.1093/narcan/zcad025.
  68. Đorđević A. NANOINFORMATICS, COMPUTER APPLICATIONS FOR NANOMEDICINE. Social Informatics. 2023. doi:10.58898/sij.v2i1.27-32.
  69. Panagopoulos I, Andersen K, Brunetti M, et al. Genetic Pathways in Peritoneal Mesothelioma Tumorigenesis. Cancer Genomics & Proteomics. 2023. doi:10.21873/cgp.20388.
  70. Panagopoulos I, Andersen K, Wik HS, et al. Acute Undifferentiated Leukemia With a Balanced t(5;10)(q35;p12) Resulting in Fusion of HNRNPH1 With MLLT10. Cancer Genomics & Proteomics. 2023. doi:10.21873/cgp.20387.
  71. Wang Y, Yu C, Pei G, et al. Dissolution of oncofusion transcription factor condensates for cancer therapy. Nat Chem Biol. 2023. doi:10.1038/s41589-023-01376-5.
  72. Lanic MD, Guérin R, Wassef M, et al. Detection of salivary gland and sinonasal fusions by a next-generation sequencing based, ligation-dependent, multiplex RT-PCR assay. Histopathology. 2023. doi:10.1111/his.14971.
  73. Lo CS. Functional Assessment on the Differential Effect of Mutant p53-Plakoglobin Interaction in Carcinoma Cells. ERA. 2023. doi:10.7939/r3-b12y-7833.
  74. Ratajczak B, Przybyłowicz-Chalecka A, Czerwińska-Rybak J, et al. The presence of additional cytogenetic aberrations in chronic myeloid leukemia cells at the time of diagnosis or their appearance on tyrosine kinase inhibitor therapy predicts the imatinib treatment failure. Leukemia Research. 2023. doi:10.1016/j.leukres.2023.107349.
  75. Schimmelpfennig C, Rade M, Füssel S, et al. Characterization and evaluation of gene fusions as a measure of genetic instability and disease prognosis in prostate cancer. BMC Cancer. 2023. doi:10.1186/s12885-023-11019-6.
  76. Steffens Reinhardt L, Groen K, Xavier A, et al. p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression. International Journal of Molecular Sciences. 2023. doi:10.3390/ijms241210078.
  77. Stružinská I, Hájková N, Hojný J, et al. A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations. Diagnostic Pathology. 2023. doi:10.1186/s13000-023-01358-0.
  78. Wakayama S, Ouchi K, Takahashi S, et al. TP53 Gain-of-Function Mutation is a Poor Prognostic Factor in High-Methylated Metastatic Colorectal Cancer. Clinical Colorectal Cancer. 2023. doi:10.1016/j.clcc.2023.06.001.
  79. Ahmad S, Khan FN, Ramlal A, et al. Chapter 11 - Nanoinformatics and nanomodeling: Recent developments in computational nanodrug design and delivery systems. Elsevier. 2023. doi:10.1016/B978-0-323-91182-5.00001-2.
  80. Ananthaneni A, Benzar T, Hafiz N, et al. De novo monocytic-M5b AML with t(8;16) (p11.2; p13.3) KAT6A/CREBBP fusion and FLT3-TKD mutation complicated by chemotherapy-induced Takotsubo cardiomyopathy. BMJ Case Reports CP. 2023. doi:10.1136/bcr-2022-253812.
  81. Khan F, Akhtar S, Kamal MA, et al. Nanoinformatics and Personalized Medicine: An Advanced Cumulative Approach for Cancer Management. Current Medicinal Chemistry. 2023. doi:10.2174/0929867329666220610090405.
  82. Li H, Wang Q. Chimeric RNAs and their implication in prostate cancer. Cancer Pathogenesis and Therapy. 2023. doi:10.1016/j.cpt.2023.04.003.
  83. Nadikattu RR. The role of nanoinformatics in America. 2023.
  84. Naeem A, Suhail M, Basit A, et al. Chapter 19 - Convergence of artificial intelligence and nanotechnology in the development of novel formulations for cancer treatment. Academic Press. 2023. doi:10.1016/B978-0-323-89925-3.00019-8.
  85. Orzan F, De Bacco F, Lazzarini E, et al. Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation. Clinical Cancer Research. 2023. doi:10.1158/1078-0432.CCR-22-2903.
  86. Sadoq BE, Britel M, Bouajaj A, et al. A Review on Antibacterial Activity of Nanoparticles. Biointerface Research in Applied Chemistry. 2023. doi:1.33263/BRIAC135.405.
  87. Sasaki K, Takahashi S, Ouchi K, et al. Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types. Scientific Reports. 2023. doi:10.1038/s41598-023-32092-8.
  88. Striker SS, Wilferd SF, Lewis EM, et al. Systematic integration of protein-affecting mutations, gene fusions, and copy number alterations into a comprehensive somatic mutational profile. Cell Reports Methods. 2023. doi:10.1016/j.crmeth.2023.100442.
  89. Teku G, Nilsson J, Magnusson L, et al. Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein. Genes, Chromosomes and Cancer. 2023. doi:10.1002/gcc.23176.
  90. Torrezan GT, Mehdipour P. Women in cancer genetics vol II: 2022. Frontiers Media SA. 2023.
  91. Yan X, Yue T, Winkler DA, et al. Converting Nanotoxicity Data to Information Using Artificial Intelligence and Simulation. Chemical Reviews. 2023. doi:10.1021/acs.chemrev.3c00070.
  92. Yoon SJ, Combs JA, Falzone A, et al. Comprehensive Metabolic Tracing Reveals the Origin and Catabolism of Cysteine in Mammalian Tissues and Tumors. Cancer Research. 2023. doi:10.1158/0008-5472.CAN-22-3000.
  93. Bomben R, Zucchetto A, Pozzo F, et al. TP53 Mutations and Clinical Outcome in Chronic Lymphocytic Leukemia: Is a Threshold Still Needed?. HemaSphere. 2023. doi:10.1097/HS9.0000000000000855.
  94. Charlab R, Racz R. The expanding universe of NUTM1 fusions in pediatric cancer. Clinical and Translational Science. 2023. doi:10.1111/cts.13535.
  95. Cheng CK, Yung YL, Chan HY, et al. Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia. Commun Biol. 2023. doi:10.1038/s42003-023-04732-2.
  96. Feng R, Yin Y, Wei Y, et al. Mutant p53 activates hnRNPA2B1-AGAP1-mediated exosome formation to promote esophageal squamous cell carcinoma progression. Cancer Letters. 2023. doi:10.1016/j.canlet.2023.216154.
  97. Huang Q, Li F, Ji M, Lin L, Hu C. Evaluating the prognostic significance of p53 and TP53 mutations in HPV-negative hypopharyngeal carcinoma patients: a 5-year follow-up retrospective study. BMC Cancer. 2023. doi:10.1186/s12885-023-10775-9.
  98. Kannan M. Artificial Intelligence in Cancer Researches. International Journal of Trends in OncoScience. 2023.
  99. Kosik P, Skorvaga M, Belyaev I. Preleukemic Fusion Genes Induced via Ionizing Radiation. International Journal of Molecular Sciences b. 2023. doi:10.3390/ijms24076580.
  100. Luebeck J, Ng AWT, Galipeau PC, et al. Extrachromosomal DNA in the cancerous transformation of Barrett’s oesophagus. Nature. 2023. doi:10.1038/s41586-023-05937-5.
  101. Omran M. Heritable TP53-Related Cancer Syndrome in Sweden : Characterisation of Genotype-Phenotype Correlation and Surveillance. Inst för onkologi-patologi / Dept of Oncology-Pathology. 2023.
  102. Romanovsky E, Kluck K, Ourailidis I, et al. Homogenous TP53mut-associated tumor biology across mutation and cancer types revealed by transcriptome analysis. Cell Death Discovery. 2023. doi:10.1038/s41420-023-01413-1.
  103. C V, G P, Gavriilaki E, et al. Long Term Survival of Chronic Myeloid Leukemia Patients with Chromosomal Aberrations in Philadelphia Negative Metaphases During Treatment with Tyrosine Kinase Inhibitors. Austin Journal of Clinical Medicine. 2023. doi:10.26420/austinjclinmed.2022.1043.
  104. Funk J, Klimovich M, Pavlakis E, et al. Functional diversity of the TP53 mutome revealed by saturating CRISPR mutagenesis. 2023. doi:10.1101/2023.03.10.531074.
  105. Golovine K, Abalakov G, Lian Z, et al. ABL1 kinase as a tumor suppressor in AML1-ETO and NUP98-PMX1 leukemias. Blood Cancer Journal. 2023. doi:10.1038/s41408-023-00810-0.
  106. Majhi P, Sharma A, Jerry DJ. Genetic modifiers of p53: opportunities for breast cancer therapies. Oncotarget. 2023. doi:10.18632/oncotarget.28387.
  107. Nishio M, Paz-Ares L, Reck M, et al. RELAY, Ramucirumab plus Erlotinib (RAM+ERL) in Untreated Metastatic EGFR-Mutant NSCLC (EGFR+ NSCLC): Association between TP53 Status and Clinical Outcome. Clinical Lung Cancer. 2023. doi:10.1016/j.cllc.2023.02.010.
  108. Schulz WA. Cancer Genetics. In: Schulz WA, ed. Molecular Biology of Human Cancers. Springer International Publishing. 2023. doi:10.1007/978-3-031-16286-2_2.
  109. Wang H, Guo M, Wei H, Chen Y. Targeting p53 pathways: mechanisms, structures, and advances in therapy. Signal Transduction and Targeted Therapy. 2023. doi:10.1038/s41392-023-01347-1.
  110. Watson S, LaVigne CA, Xu L, et al. VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis. Cell Reports. 2023. doi:10.1016/j.celrep.2023.112013.
  111. Tucker J, Bonema S, García-Varela R, et al. Misaligned Chromosomes are a Major Source of Chromosomal Instability in Breast Cancer. Cancer Research Communications. 2023. doi:10.1158/2767-9764.CRC-22-0302.
  112. Tam B, Qin Z, Zhao B, Wang SM, Lei CL Integration of Deep Learning with Ramachandran Plot Molecular Dynamics Simulation for Genetic Variant Classification. iScience. 2023. doi:10.1016/j.isci.2023.106122.
  113. Sahnane N, Rivera D, Libera L, et al. Pyrosequencing Assay for BRCA1 Methylation Analysis: Results from a Cross-Validation Study. The Journal of Molecular Diagnostics. 2023. doi:10.1016/j.jmoldx.2023.01.003.
  114. Orsini A, Mastracci L, Bozzarelli I, et al. Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma. Cancers. 2023. doi:10.3390/cancers15051408.
  115. Malhotra L, Singh A, Kaur P, Ethayathulla AS Phenotypical mapping of TP53 unique missense mutations spectrum in human cancers. bioRxiv. 2023.
  116. Heng E, Thanedar S, Heng HH Challenges and Opportunities for Clinical Cytogenetics in the 21st Century. Genes. 2023. doi:10.3390/genes14020493.
  117. Tolomeo D, Agostini A, Solimando AG, et al. A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions. Cancer Genetics. 2023. doi:10.1016/j.cancergen.2023.01.003.
  118. Nyman J, Denize T, Bakouny Z, et al. Spatially Aware Deep Learning Reveals Tumor Heterogeneity Patterns That Encode Distinct Kidney Cancer States. Cancer Biology. Cancer Biology. 2023. doi:10.1101/2023.01.18.524545.
  119. Martins-Chaves RR, Silva RSO, Pereira T dos SF, Fonseca FP, Gomez RS. Evolution tumour models paving the way for understanding oral carcinogenesis. Journal of Oral Pathology & Medicine. 2023. doi:10.1111/jop.13402.
  120. Marco-Brualla J, de Miguel D, Martínez-Lostao L, Anel A. DR5 Up-Regulation Induced by Dichloroacetate Sensitizes Tumor Cells to Lipid Nanoparticles Decorated with TRAIL. Journal of Clinical Medicine. 2023. doi:10.3390/jcm12020608.
  121. Dawoud AAZ. The Causes and Consequences of Clonal Haematopoiesis. University of Southampton. 2023.
  122. Balzano E. Common Fragile Sites: a new tool to study chromosome instability diseases. Charles Darwin Department of Biology and Biotechnology, Sapienza University of Rome. 2023.
  123. Kumar A Chemical Threats to Nature: Life. In Environmental Chemistry and Its Applications for the Pollution Abatement. Blue Hill Publications. 2022. doi:10.5281/zenodo.6819273.
  124. Uhrik L Study of structural changes within proteins important in tumour biology using hydrogen-deuterium exchange coupled with mass spectrometry.. Dissertation. 2022.
  125. Sahin Y, Wang YL, Pei J, et al Sohail M, Ikram P. Cancer Genomics and IT Infrastructure for data storage and analysis. Journal of Carcinogenesis. 2022. doi:10.4103/jcar.jcar_21_02_10.
  126. García-Romero A, González-Arreola RM, Borjas-Gutiérrez C, Magaña-Torres MT, González-García JR Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases. Cytogenet Genome Res. 2022. doi:10.1159/000527370.
  127. Anitha DC, Gnanatheepa KTC, Hubert G, Yadav R, Naik SB, Singh B AI BASED HERBAL TREATMENT FOR CANCER CELL. Journal of Pharmaceutical Negative Results. 2022. doi:10.47750/pnr.2022.13.S07.920.
  128. Abad-Carratalà G, Blanco-Silvestre M, Sánchez-Llopis A, et al Two Clinical Cases of Li-Fraumeni Syndrome and Prostate Cancer: Genetic Counseling and Clinical-Surgical Management. Clinical Genitourinary Cancer. 2022. doi:10.1016/j.clgc.2022.06.002.
  129. Closa A, Reixachs-Sole M, Fuentes-Fayos AC, et al. A convergent malignant phenotype in B-cell acute lymphoblastic leukemia involving the splicing factor SRRM1. NAR Cancer. 2022. doi:10.1093/narcan/zcac041.
  130. Colombo C, Pogliaghi G, Tosi D, et al. Thyroid cancer harboring PTEN and TP53 mutations: A peculiar molecular and clinical case report. Front Oncol.. 2022. doi:10.3389/fonc.2022.949098.
  131. Garsed, DW, Pandey, A, Fereday, S et al. The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer. Nat Genet. 2022. doi:10.1038/s41588-022-01230-9.
  132. Lopez de Lapuente Portilla A, Ekdahl L, Cafaro C, et al. Genome-wide association study on 13 167 individuals identifies regulators of blood CD34+cell levels. Blood. 2022. doi:10.1182/blood.2021013220.
  133. Mešanović S, Krašić A. Analysis of cytogenetic aberrations in a bone marrow of patients with malignant head and neck lymphadenopathies - A single center experience. Genetics & Applications. 2022. doi:10.31383/ga.vol6iss2ga07.
  134. Panagopoulos I, Andersen K, Johannsdottir IMR, Micci F, Heim S. Novel MYCBP::EHD2 and RUNX1::ZNF780A Fusion Genes in T-cell Acute Lymphoblastic Leukemia. Cancer Genomics Proteomics. 2023. doi:10.21873/cgp.20364.
  135. Sorokin M, Rabushko E, Rozenberg JM, et al. Clinically relevant fusion oncogenes: detection and practical implications. Ther Adv Med Oncol.. 2022. doi:10.1177/17588359221144108.
  136. Talka M. Optimized sampling protocol for fusion gene detection in acute leukemia diagnostics using RNA sequencing. HELDA - Digital Repository of the University of Helsinki. 2022. doi:10.1186/s12894-022-01141-1.
  137. Mori T. Involvement of the p53-p16/RB pathway control mechanism in early-stage carcinogenesis in head and neck squamous cell carcinoma. Pathology International. 2022. doi:10.1111/pin.13279.
  138. Urbanski L, Brugiolo M, Park S, et al. MYC regulates a pan-cancer network of co-expressed oncogenic splicing factors. Cell Reports. 2022. doi:10.1016/j.celrep.2022.111704.
  139. Keshavarz-Rahaghi F, Pleasance E, Kolisnik T, Jones SJM A p53 transcriptional signature in primary and metastatic cancers derived using machine learning. Frontiers. 2022. doi:10.3389/fgene.2022.987238.
  140. Zhang M, Yao X, Guan X, et al. Clinical relevance of BCOR internal tandem duplication and TP53 aberration in clear cell sarcoma of the kidney. Human Pathology. 2022. doi:10.1016/j.humpath.2022.12.007.
  141. Yang Y, Zhang G, Hu C, et al. The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk. BMC Urol. 2022. doi:10.1186/s12894-022-01141-1.
  142. Sebastian AM, Peter D. Artificial Intelligence in Cancer Research: Trends, Challenges and Future Directions. Life. 2022. doi:10.3390/life12121991.
  143. Ke W, Crist RM, Clogston JD, et al. Trends and patterns in cancer nanotechnology research: A survey of NCI’s caNanoLab and nanotechnology characterization laboratory. Advanced Drug Delivery Reviews. 2022. doi:10.1016/j.addr.2022.114591.
  144. Canoy RJ, Shmakova A, Karpukhina A, Shepelev M, Germini D, Vassetzky Y. Factors That Affect the Formation of Chromosomal Translocations in Cells. Cancers. 2022. doi:10.3390/cancers14205110.
  145. Decock A, Creytens D, Lefever S, et al. mRNA Capture Sequencing and RT-qPCR for the Detection of Pathognomonic, Novel, and Secondary Fusion Transcripts in FFPE Tissue: A Sarcoma Showcase. International Journal of Molecular Sciences. 2022. doi:10.3390/ijms231911007.
  146. Matsumoto N, Manrai P, Rottmann D, et al. Correlative Assessment of p53 Immunostaining Patterns and TP53 Mutation Status by Next-Generation Sequencing in High-Grade Endometrial Carcinomas. International Journal of Gynecological Pathology. 2022. doi:10.1097/PGP.0000000000000930.
  147. Heesterbeek CJ, Aukema SM, Galjaard RJH, et al. Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study. Journal of Clinical Oncology. 2022. doi:10.1200/JCO.21.02260.
  148. Aguilar B, Abdilleh K, Acquaah-Mensah G. Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients. Cancer Genetics. 2022. doi:10.1016/j.cancergen.2022.11.001.
  149. Cirakoglu A, Kuru RD, Yilmaz S, et al. Cytogenetic profile of adult AML patients in Turkey: a single center study with comprehensive comparison with literature. African Health Sciences. 2022.
  150. García R, Timmons C, Luu H, et al. A t(11;14)(q13;q32)/CCND1::IGH carrying progenitor germinal B-cell with subsequent cytogenetic aberrations contributes to the development of classic Hodgkin lymphoma. Cancer Genetics. 2022. doi:10.1016/j.cancergen.2022.09.009.
  151. Lauricella C, Greco R, Mancini V, et al. Acute Promyelocytic Leukemia with del(6)(p22) and Atypical bcr2 PML::RARA Fusion Transcript: A Case Report. Acta Haematologica. 2022. doi:10.1159/000527316.
  152. Panagopoulos I, Heim S. Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation. CANCER GENOMICS. 2022.
  153. Erfannia L, Alipour J. How does cloud computing improve cancer information management? A systematic review. Informatics in Medicine Unlocked. 2022. doi:10.1016/j.imu.2022.101095.
  154. Mandahl N, Mitelman F. Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions. Genes, Chromosomes and Cancer. 2022. doi:10.1002/gcc.23095.
  155. Park H, Shapiro GI, Gao X, et al. Phase Ib study of eprenetapopt (APR-246) in combination with pembrolizumab in patients with advanced or metastatic solid tumors☆. ESMO Open. 2022. doi:10.1016/j.esmoop.2022.100573.
  156. Trac QT, Zhou T, Pawitan Y, et al. Discovery of druggable cancer-specific pathways with application in acute myeloid leukemia. GigaScience. 2022. doi:10.1093/gigascience/giac091.
  157. Mirzaei G. GraphChrom: A Novel Graph-Based Framework for Cancer Classification Using Chromosomal Rearrangement Endpoints. Cancers. 2022. doi:10.3390/cancers14133060.
  158. De Luca G, Cerruti G, Lastraioli S, et al. The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study. Hematological Oncology. 2022. doi:10.1002/hon.3063.
  159. Hindawi. Preclinical Evaluation of the Tumorigenic and Immunomodulatory Properties of Human Bone Marrow Mesenchymal Stromal Cell Populations with Clonal Trisomy 5. 2022.
  160. Penkert J, Strüwe FJ, Dutzmann CM, et al. Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry. Journal of Hematology & Oncology. 2022. doi:10.1186/s13045-022-01332-1.
  161. Stenman G, Fehr A, Skálová A, et al. Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas. Biomedicines. 2022. doi:10.3390/biomedicines10081970.
  162. Panagopoulos I, Andersen K, Gorunova L, et al. A Novel Cryptic t(2;3)(p21;q25) Translocation Fuses the WWTR1 and PRKCE Genes in Uterine Leiomyoma With 3q- as the Sole Visible Chromosome Abnormality. CANCER GENOMICS. 2022.
  163. Brunetti M, Panagopoulos I, Vitelli V, et al. Endometrial Carcinoma: Molecular Cytogenetics and Transcriptomic Profile. Cancers. 2022. doi:10.3390/cancers14143536.
  164. Elsner F, Hoffmann M, Fahrioglu-Yamaci R, et al. Disseminated cancer cells detected by immunocytology in lymph nodes of NSCLC patients are highly prognostic and undergo parallel molecular evolution. The Journal of Pathology. 2022. doi:10.1002/path.5996.
  165. Fernandes S, Fragoso S, Filipe B, et al. Diagnosis, follow up and clinical management of individuals identified with a TP53 pathogenic variant. Medical Research Archives. 2022. doi:110.18103/mra.v10i7.2846.
  166. Fitzpatrick MJ, Boiocchi L, Fathi AT, et al. Correlation of p53 immunohistochemistry with TP53 mutational status and overall survival in newly diagnosed acute myeloid leukaemia. Histopathology. 2022. doi:10.1111/his.14726.
  167. Gorecki L, Muthna D, Merdita S, et al. 7-Azaindole, 2,7-diazaindole, and 1H-pyrazole as core structures for novel anticancer agents with potential chemosensitizing properties. European Journal of Medicinal Chemistry. 2022. doi:10.1016/j.ejmech.2022.114580.
  168. Malhotra L, Singh A, Kaur P, et al. Comprehensive omics studies of p53 mutants in human cancer. Briefings in Functional Genomic. 2022. doi:10.1093/bfgp/elac015.
  169. Persson M, Andersson MK, Mitani Y, et al. Rearrangements, Expression, and Clinical Significance of MYB and MYBL1 in Adenoid Cystic Carcinoma: A Multi-Institutional Study. Cancers. 2022. doi:10.3390/cancers14153691.
  170. Ran R, Li L, Shi Z, et al. Disruption of tp53 leads to cutaneous nevus and melanoma formation in Xenopus tropicalis. Molecular Oncology. 2022. doi:10.1002/1878-0261.13301.
  171. Wang H, Zhao C, Santa-Maria CA, et al. Dynamics of tumor-associated macrophages in a quantitative systems pharmacology model of immunotherapy in triple-negative breast cancer. iScience. 2022. doi:10.1016/j.isci.2022.104702.
  172. Wang L, Wang W, Beird H, et al. PPP1R7 Is a Novel Translocation Partner of CBFB via t(2;16)(q37;q22) in Acute Myeloid Leukemia. Genes. 2022.
  173. Wästerlid T, Cavelier L, Haferlach C, et al. Application of precision medicine in clinical routine in haematology—Challenges and opportunities. Journal of Internal Medicine. 2022. doi:10.1111/joim.13508.
  174. Zedan HT, Ali FH, Zayed H. The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases. Chromosoma. 2022. doi:10.1007/s00412-022-00775-2.
  175. Panagopoulos I, Gorunova L, Andersen K, et al. Chromosomal Translocation t(5;12)(p13;q14) Leading to Fusion of High-mobility Group AT-hook 2 Gene With Intergenic Sequences From Chromosome Sub-Band 5p13.2 in Benign Myoid Neoplasms of the Breast: A Second Case. Cancer Genomics & Proteomics. 2022. doi:10.21873/cgp.20331.
  176. Swiatkowska A. p53 and Its Isoforms in Renal Cell Carcinoma—Do They Matter?. Biomedicines. 2022. doi:10.3390/biomedicines10061330.
  177. Akhila. Acute myeloid leukemia patients with variant or unusual translocations involving chromosomes 8 and 21 – A comprehensive cytogenetic profiling of three cases with review of literature. 2022.
  178. Talebi A, Shahidsales S, Aliakbarian M, et al. Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer. Cancer Medicine. 2022. doi:10.1002/cam4.4943.
  179. Torcivia JP, Mazumder R. Scanning window analysis of non-coding regions within normal-tumor whole-genome sequence samples. Briefings in Bioinformatics. 2021. doi:10.1093/bib/bbaa203.
  180. Yamamoto K, Kawamoto S, Chijiki R, et al. Biclonal diffuse large B-cell lymphoma commonly characterized by partial trisomy 18q involving MALT1 and BCL2. Internal Medicine. 2022. doi:10.2169/internalmedicine.9711-22.
  181. Panagopoulos I, Gorunova L, Andersen K, et al. Fusion of the Paired Box 3 (PAX3) and Myocardin (MYOCD) Genes in Pediatric Rhabdomyosarcoma. CANCER GENOMICS. 2021.
  182. Bernués M, González T, Corchete LA, et al. A new cytogenetic marker in hematological malignancies. Cancer Genetics. 2022. doi:10.1016/j.cancergen.2022.03.004.
  183. García R, Hussain A, Chen W, et al. An artificial intelligence system applied to recurrent cytogenetic aberrations and genetic progression scores predicts MYC rearrangements in large B-cell lymphoma. eJHaem. 2022. doi:10.1002/jha2.451.
  184. Hedges DJ. RNA-seq Fusion Detection in Clinical Oncology. In: Laganà A, ed. Computational Methods for Precision Oncology. Advances in Experimental Medicine and Biology. Springer International Publishing. 2022. doi:10.1007/978-3-030-91836-1_9.
  185. Möller E, Praz V, Rajendran S, et al. EWSR1-ATF1 dependent 3D connectivity regulates oncogenic and differentiation programs in Clear Cell Sarcoma. Nat Commun. 2022. doi:10.1038/s41467-022-29910-4.
  186. Moser R, Gurley KE, Nikolova O, et al. Synthetic lethal kinases in Ras/p53 mutant squamous cell carcinoma. Oncogene. 2022. doi:10.1038/s41388-022-02330-w.
  187. Sobahy TM, Tashkandi G, Bahussain D, et al. Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows. BMC Medical Genomics. 2022. doi:10.1186/s12920-022-01235-7.
  188. Stembalska A, Pesz K. The role of genetic counselling in oncology. Nowotwory Journal of Oncology. Nowotwory Journal of Oncology. 2022. doi:10.5603/NJO.2022.0030.
  189. Zanetti M, Xian S, Dosset M, et al The Unfolded Protein Response at the Tumor-Immune Interface. Front Immunol. 2022. doi:10.3389/fimmu.2022.823157.
  190. Hoyos D, Greenbaum B, Levine AJ. The genotypes and phenotypes of missense mutations in the proline domain of the p53 protein. Cell Death & Differentiation. 2022. doi:10.1038/s41418-022-00980-7.
  191. Maitre E, Tomowiak C, Lebecque B, et al. Deciphering Genetic Alterations of Hairy Cell Leukemia and Hairy Cell Leukemia-like Disorders in 98 Patient. Cancers. 2022. doi:10.3390/cancers14081904.
  192. Morgan R, Keeley D, Hazard ES, et al. Fusion Genes in Prostate Cancer: A Comparison in Men of African and European Descent. Biology. 2022. doi:10.3390/biology11050625.
  193. Talebi A, Rokni P, Kerachian MA. Transcriptome analysis of colorectal cancer liver metastasis: The importance of long non-coding RNAs and fusion transcripts in the disease pathogenesis. Molecular and Cellular Probes. 2022. doi:10.1016/j.mcp.2022.101816.
  194. Gorunova L, Boye K, Panagopoulos I, et al. Cytogenetic and molecular analyses of 291 gastrointestinal stromal tumors: site-specific cytogenetic evolution as evidence of pathogenetic heterogeneity. Oncotarget. 2022. doi:10.18632/oncotarget.28209.
  195. Piccolo SR, Mecham A, Golightly NP, et al. The ability to classify patients based on gene-expression data varies by algorithm and performance metric. PLOS Computational Biology. 2022. doi:10.1371/journal.pcbi.1009926.
  196. Saliba J, Church AJ, Rao S, et al. Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genetics. 2022. doi:10.1016/j.cancergen.2022.03.001.
  197. Sassi H, Meddeb R, Cherif MA, et al. Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation. BMC Med Genomics. 2022. doi:10.1186/s12920-022-01189-w.
  198. Vaddavalli PL, Schumacher B. The p53 network: cellular and systemic DNA damage responses in cancer and aging. Trends in Genetics. 2022. doi:10.1016/j.tig.2022.02.010.
  199. Bernasconi A, Canakoglu A, Masseroli M, et al. The road towards data integration in human genomics: players, steps and interactions. Briefings in Bioinformatics. 2022. doi:10.1093/bib/bbaa080.
  200. Datta S, Patel M, Kashyap S, et al. Chimeric chromosome landscapes of human somatic cell cultures show dependence on stress and regulation of genomic repeats by CGGBP1. Oncotarget. 2022. doi:10.18632/oncotarget.28174.
  201. Heim S, Mitelman F. Abnormal Chromosomes: The Past, Present, and Future of Cancer Cytogenetics. John Wiley & Sons. 2022. isbn:978-1-119-65203-8.
  202. Lejman M, Chałupnik A, Chilimoniuk Z, et al. Genetic Biomarkers and Their Clinical Implications in B-Cell Acute Lymphoblastic Leukemia in Children. International Journal of Molecular Sciences. 2022. doi:10.3390/ijms23052755.
  203. Bang B, Eisfeldt J, Barbany G, et al. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twin. Blood Advances. 2022. doi:10.1182/bloodadvances.2021005703.
  204. Bueschbell B, Caniceiro AB, Suzano PMS, et al. Network biology and artificial intelligence drive the understanding of the multidrug resistance phenotype in cancer. Drug Resistance Updates. 2022. doi:10.1016/j.drup.2022.100811.
  205. Macagno N, Pissaloux D, de la Fouchardière A, et al. Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis. Genes, Chromosomes and Cancer. 2022. doi:10.1002/gcc.23026.
  206. Plaugher D, Aguilar B, Murrugarra D. Uncovering potential interventions for pancreatic cancer patients via mathematical modeling. bioRxiv. 2022. doi:10.1101/2022.01.11.475711.
  207. Keimakh D. Robust Identification of Gene Fusions from RNA Sequencing Data and Their Potential as Biomarkers of Drug Response. Published online. 2021.
  208. Haas OA. Somatic Sex: On the Origin of Neoplasms With Chromosome Counts in Uneven Ploidy Ranges. Frontiers in Cell and Developmental Biology. 2021. doi:10.3389/fcell.2021.631946.
  209. Avgerinou G, Stefanaki K, Liapis K, et al. Fish evaluation of additional cytogenetic aberrations and hyperdiploidy in childhood Burkitt lymphoma. Leukemia & Lymphoma. 2021. doi:10.1080/10428194.2021.1998480.
  210. Bruford EA, Antonescu CR, Carroll AJ, et al. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia. 2021. doi:10.1038/s41375-021-01436-6.
  211. Chebly A, Djambas Khayat C, Yammine T, et al. Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome. Leukemia Research Reports. 2021. doi:10.1016/j.lrr.2021.100277.
  212. Lilljebjörn H, Orsmark-Pietras C, Mitelman F, Hagström-Andersson A, et al. Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia. Seminars in Cancer Biology. 2021. doi:10.1016/j.semcancer.2021.09.013.
  213. Zou AYS. Adoption of Optical Genome Mapping in Clinical Cancer Cytogenetic Laboratory: A Stepwise Approach – Journal of Clinical & Anatomic Pathology (JCAP). Journal of Clinical & Anatomic Pathology. 2021.
  214. Gibbs DL, Aguilar B, Thorsson V, Ratushny AV, Shmulevich I. Patient-Specific Cell Communication Networks Associate With Disease Progression in Cancer. Frontiers in Genetics. 2021;12:1489. doi:10.3389/fgene.2021.667382.
  215. Elmarakeby HA, Hwang J, Arafeh R, et al. Biologically informed deep neural network for prostate cancer discovery. Nature. 2021. doi:10.1038/s41586-021-03922-4.
  216. Raghav P, Mann Z, Pandey P, et al. Systems Biology Resources and Their Applications to Understand the Cancer. 2021. doi:10.1007/978-981-15-4501-6_140-1.
  217. Najafi A, Emami N, Samad-Soltani T, et al. Integration of Genomics Data and Electronic Health Records Toward Personalized Medicine: A Targeted Review. Frontiers in Health Informatics. 2021. doi:10.30699/fhi.v10i1.299.
  218. Östlund D. Genomics in the Cloud. 2021.
  219. Toh C. Chromosomal scale length variations as a genetic risk score for predicting complex human diseases in large scale genomic datasets. 2021.
  220. Toh C, Brody JP. Genetic risk score for ovarian cancer based on chromosomal-scale length variation. BioData Mining. 2021. doi:10.1186/s13040-021-00253-y.
  221. Ko C, Brody JP. A genetic risk score for glioblastoma multiforme based on copy number variations. Cancer Treatment and Research Communications. 2021. doi:10.1016/j.ctarc.2021.100352.
  222. Koppad S, B A, Gkoutos GV, Acharjee A. Cloud Computing Enabled Big Multi-Omics Data Analytics. Bioinform Biol Insights. 2021. doi:10.1177/11779322211035921.
  223. Walter W, Shahswar R, Stengel A, et al. Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia. BMC Cancer. BMC Cancer. 2021. doi:10.1186/s12885-021-08635-5.
  224. Bernasconi A, Canakoglu A, Masseroli M, et al. The road towards data integration in human genomics: players, steps and interactions. Briefings in Bioinformatics. 2021. doi:10.1093/bib/bbaa080.
  225. Costa D, Granada I, Espinet B, et al. Balanced and unbalanced translocations in a multicentric series of 2,843 patients with chronic lymphocytic leukemia. Genes, Chromosomes and Cancer. 2021. doi:10.1002/gcc.22994.
  226. Miga KH, Sullivan BA. Expanding studies of chromosome structure and function in the era of T2T genomics. Human Molecular Genetics. 2021. doi:10.1093/hmg/ddab214.
  227. Haferlach C, Walter W, Stengel A, et al. The diverse landscape of fusion transcripts in 25 different hematological entities. Leukemia & Lymphoma. 2021. doi:10.1080/10428194.2021.1953009.
  228. Panagopoulos I, Gorunova L, Andersen K, Lobmaier I, Heim S. Several Fusion Genes Identified in a Spermatic Cord Leiomyoma With Rearrangements of Chromosome Arms 3p and 21q. Cancer Genomics & Proteomics. 2021. doi:10.21873/cgp.20278.
  229. Lim HJ, Lee JH, Lee SY, et al. Diagnostic Validation of a Clinical Laboratory-Oriented Targeted RNA Sequencing System for Detecting Gene Fusions in Hematologic Malignancies. The Journal of Molecular Diagnostics. 2021. doi:10.1016/j.jmoldx.2021.05.008.
  230. O’Grady N, Gibbs DL, Abdilleh K, et al. PRoBE the cloud toolkit: finding the best biomarkers of drug response within a breast cancer clinical trial. JAMIA Open. 2021. doi:10.1093/jamiaopen/ooab038.
  231. Fedorov A, Longabaugh WJR, Pot D, et al. NCI Imaging Data Commons. Cancer Res. 2021. doi:10.1158/0008-5472.CAN-21-0950.
  232. Peart CR, Williams C, Pophaly SD, et al. Hi-C scaffolded short- and long-read genome assemblies of the California sea lion are broadly consistent for syntenic inference across 45 million years of evolution. Molecular Ecology Resources. 2021. doi:10.1111/1755-0998.13443.
  233. Andrew B, Attilio O, Sumit G, et al. A rare case of B cell lymphoblastic leukemia with inv(7)(p15q34) with review of literature. Leukemia Research Reports. 2021. doi:10.1016/j.lrr.2021.100250.
  234. Funk LC, Wan J, Ryan SD, et al. p53 Is Not Required for High CIN to Induce Tumor Suppression. Mol Cancer Res. 2021. doi:10.1158/1541-7786.MCR-20-0488.
  235. Hubert J-N, Suybeng V, Vallée M, et al. The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma. Cancers. 2021. doi:10.3390/cancers13092243.
  236. Kim JH, Megquier K, Thomas R, et al. Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions. Mol Cancer Res. 2021. doi:10.1158/1541-7786.MCR-20-0937.
  237. Mochão HDC. Improvement of KiMoSys framework for kinetic modelling. Published online February . 2021.
  238. Pös O, Radvanszky J, Styk J, et al. Copy Number Variation: Methods and Clinical Applications. Applied Science. 2021. doi:10.3390/app11020819.
  239. Wang N, Yuan L, Jing Y, et al. Double minute chromosomes in acute myeloid leukemia and myelodysplastic syndromes are associated with complex karyotype, monosomal karyotype, TP53 deletion, and TP53 mutations. Leukemia & Lymphoma. 2021.
  241. Gunnarsson R, Yang M, Olsson-Arvidsson L, et al. Single base substitution mutational signatures in pediatric acute myeloid leukemia based on whole genome sequencing. Leukemia. 2021. doi:10.1038/s41375-021-01242-0.
  242. He MX, Cuoco MS, Crowdis J, et al. Transcriptional mediators of treatment resistance in lethal prostate cancer. Nature Medicine. 2021. doi:10.1038/s41591-021-01244-6.
  243. Musicant AM, Parag-Sharma K, Gong W, et al. CRTC1/MAML2 directs a PGC-1α-IGF-1 circuit that confers vulnerability to PPARγ inhibition. Cell Reports. 2021. doi:10.1016/j.celrep.2021.108768.
  244. Panagopoulos I, Heim S. Interstitial Deletions Generating Fusion Genes. Cancer Genomics & Proteomics. 2021. doi:10.21873/cgp.20251.
  245. Privitera AP, Barresi V, Condorelli DF. Aberrations of Chromosomes 1 and 16 in Breast Cancer: A Framework for Cooperation of Transcriptionally Dysregulated Genes. Cancer. 2021. doi:10.3390/cancers13071585.
  246. Soriani S, Guido V, Bertani G, et al. BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy. Hematol Rep. 2021. doi:10.4081/hr.2021.8795.
  247. Wang X, Johnson V, Johnson L, Cook JR. RNA-Based next generation sequencing complements but does not replace fluorescence in situ hybridization studies for the classification of aggressive B-Cell lymphomas. Cancer Genetics. Cancer Genetics. 2021. doi:10.1016/j.cancergen.2020.12.004.
  248. Zapata-Dongo R, Albornoz C, Llimpe Y. Acute Myeloid Leukemia with Minimal Differentiation with Translocation t(16;21)(P11;Q22): Case Report and Review of the Literature. 2020. doi:10.13140/RG.2.2.14551.60329.
  249. Aguilar B, Gibbs DL, Reiss DJ, et al A generalizable data-driven multicellular model of pancreatic ductal adenocarcinoma. GigaScience. 2020. doi:10.1093/gigascience/giaa075.
  250. Lundin-Ström K, Biloglav A, Lazarevic V, et al. Parental origin of monosomy 7 in acute leukaemia. Wiley Online Library. 2021. doi:10.1111/bjh.17356.
  251. Abrams Z, Tally D, Zhang L, et al. Pattern recognition in lymphoid malignancies using CytoGPS and Mercator. BMC Bioinformatics. 2021. doi:10.1186/s12859-021-03992-1.
  252. Yamamoto K, Yakushijin K, Mizutani Y, et al. Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23). Cancer Genetics. 2021. doi:10.1016/j.cancergen.2021.02.006.
  253. Taniue K, Akimitsu N Fusion Genes and RNAs in Cancer Development. 2021. doi:10.3390/ncrna7010010.
  254. Behrens Y, Schienke A, Davenport C, et al. BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone. Cancer Genetics. 2021. doi:10.1016/j.cancergen.2021.02.007.
  255. Reid J, Golubeva D, Boyd A, et al. Human pluripotent stem cells identify molecular targets of trisomy 12 in chronic lymphocytic leukemia patients. Elsevier. 2021. doi:10.1016/j.celrep.2021.108845.
  256. Zachary B Abrams, Caitlin E Coombes, Suli Li, et al. Mercator: a pipeline for multi-method, unsupervised visualization and distance generation. 2021. doi:10.1093/bioinformatics/btab037.
  257. Simone Mocellin Etiology and Predisposition. Soft Tissue Tumors. 2021. doi:10.1007/978-3-030-58710-9_3.
  258. ZAn-Angela N.Van, Maya T.Kunkel, Timothy R.Baffi, et al. Protein kinase C fusion proteins are paradoxically loss-of-function in cancer. Elsevier. 2021. doi:10.1016/j.jbc.2021.100445.
  259. IOANNIS PANAGOPOULOS, KRISTIN ANDERSEN, MARTINE EILERT-OLSEN, et al. Therapy-induced Deletion in 11q23 Leading to Fusion of KMT2A With ARHGEF12 and Development of B Lineage Acute Lymphoplastic Leukemia in a Child Treated for Acute Myeloid Leukemia Caused by t(9;11)(p21;q23)/ KMT2A-MLLT3. Cancer Genomics - Proteomics. 2021. doi:10.21873/cgp.20242, issn: 1109-6535.
  260. IOANNIS PANAGOPOULOS, KRISTIN ANDERSEN, MARTINE EILERT-OLSEN, et al. Rare KMT2A-ELL and Novel ZNF56-KMT2A Fusion Genes in Pediatric T-cell Acute Lymphoblastic Leukemia.,. 2021. doi:10.21873/cgp.20247.
  261. David L Gibbs, Boris Aguilar, Vésteinn Thorsson, et al. non-coding RNA Fusion Genes and RNAs in Cancer Development. 2021. doi:10.1101/2021.02.08.430343.
  262. Yamamoto K, Kurata K, Higashime A, et al. Non-inverted Duplication of 11q, dup(11)(q11q24), in a Diffuse Large B Cell Lymphoma Without MYC Rearrangement: Case Report. SN Comprehensive Clinical Medicine. 2021. doi:10.1007/s42399-021-00866-8.
  263. Shetty D, Mohanty P, Talker E, et al. Importance of conventional cytogenetics in the identification of ins(19;X)(q13.1;p11.2q28) and t(1;11)(q10;p10), both, novel cytogenetic abnormalities in a pediatric AML case. Elsevier. 2021. doi:10.1016/j.cancergen.2021.03.002.
  264. Toh C, Brody JP. Chromosomal Scale Length Variation of Germline DNA Can Predict Individual Cancer Risk. 2020. doi:10.1101/303339.
  265. Panayides AS, Amini A, Filipovic ND, et al. AI in Medical Imaging Informatics: Current Challenges and Future Directions. IEEE Journal of Biomedical and Health Informatics. 2020. doi:10.1109/JBHI.2020.2991043.
  266. Liu-Smith F, Lu Y. Opposite Roles of BAP1 in Overall Survival of Uveal Melanoma and Cutaneous Melanoma. Journal of Clinical Medicine. 2020. doi:10.3390/jcm9020411.
  267. Baptiste Gailllard, Pascale Cornillet‐Lefebvre, Quoc‐Hung Le, et al. Clinical and biological features of B‐cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities. British Journal of Haematology. 2020. doi:10.1111/bjh.17141, issn: 0007-1048.
  268. Alejandra Cervera Taboada Transcriptomics analysis and its applications in cancer. 2020. isbn:9789515168658.
  269. Deng H, Hung L-H, Schooley R, et al. Profiling Resource Utilization of Bioinformatics Workflows. arXiv:200511491 [cs]. 2020.
  270. Florian Puls, Abbas Agaimy, Uta Flucke, et al. Recurrent fusions between YAP1 and KMT2A in morphologically distinct neoplasms within the spectrum of low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma. American Journal of Surgical Pathology. 2020. doi:10.1097/PAS.0000000000001423, pmid: 31913156, issn: 15320979.
  271. Carolina Martinelli, Fabio Gabriele, Federico Manai, et al. The search for molecular markers in a gene-orphan case study of a pediatric spinal cord pilocytic astrocytoma. Cancer Genomics and Proteomics. 2020. doi:10.21873/cgp.20172, pmid: 32108034, issn: 17906245.
  272. Nathan K. Leclair, Mattia Brugiolo, Laura Urbanski, et al. Poison Exon Splicing Regulates a Coordinated Network of SR Protein Expression during Differentiation and Tumorigenesis. Molecular Cell. 2020. doi:10.1016/j.molcel.2020.10.019, pmid: 33176162, issn: 10974164.
  273. Yu Chien Kao, Jen Chieh Lee An update of molecular findings in uterine tumor resembling ovarian sex cord tumor and GREB1-rearranged uterine sarcoma with variable sex-cord differentiation. Genes Chromosomes and Cancer. 2020. doi:10.1002/gcc.22909, pmid: 33099842, issn: 10982264.
  274. Dhanlaxmi Shetty, Pratibha Kadam Amare, Purvi Mohanty, et al. Investigating the clinical, hematological and cytogenetic profile of endoreduplicated hypodiploids in BCP-ALL. Blood Cells, Molecules, and Diseases. 2020. doi:10.1016/j.bcmd.2020.102465, pmid: 32693366, issn: 10960961.
  275. Ninad Oak, Andrew D. Cherniack, R. Jay Mashl, et al. Ancestry-specific predisposing germline variants in cancer. Genome Medicine. 2020. doi:10.1186/s13073-020-00744-3, pmid: 32471518, issn: 1756994X.
  276. Alexandre Fagnan, Thomas Mercher NUP98 and KMT2A: Usually the bride rather than the bridesmaid. Haematologica. 2020. doi:10.3324/haematol.2020.253476, pmid: 32611575, issn: 15928721.
  277. Maryam Kakay Afshari Transcriptomic and functional studies of fusion oncogene-driven salivary gland tumors. 2020. isbn: 9789180091107.
  278. Diana Le Duc, Chen-Ching Lin, Yulia Popkova, et al. Reduced lipolysis in lipoma phenocopies lipid accumulation in obesity. International Journal of Obesity. 2020. doi:10.1038/s41366-020-00716-y, issn: 1476-5497.
  279. Nikolai Lomov, Elena Zerkalenkova, Svetlana Lebedeva, et al. Cytogenetic and molecular genetic methods for chromosomal translocations detection with reference to the KMT2A/MLL gene. Critical Reviews in Clinical Laboratory Sciences. 2020. doi:10.1080/10408363.2020.1844135, issn: 1549781X.
  280. Kawther Abdilleh, Boris Aguilar, J. Ross Thomson Multi-omics data integration in the Cloud. Proceedings of the 11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. 2020. isbn: 9781450379649, doi: 10.1145/3388440.3414917.
  281. Dondra Bailey, Kawther Abdilleh, Boris Aguilar, et al. Multi-omics characterization of Microtubule-actin cross linking factor 1 (MACF1) using the ISB-Cancer Genomics Cloud. Proceedings of the 11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics. 2020. isbn: 9781450379649, doi: 10.1145/3388440.3414918.
  282. Anna Stengel, Rabia Shahswar, Torsten Haferlach, et al. Whole transcriptome sequencing detects a large number of novel fusion transcripts in patients with AML and MDS. Blood Advances. 2020. doi:10.1182/bloodadvances.2020003007, issn: 2473-9529.
  283. Song Cao, Daniel Cui Zhou, Clara Oh, et al. Discovery of driver non-coding splice-site-creating mutations in cancer. Nature Communications. 2020. doi:10.1038/s41467-020-19307-6, issn: 2041-1723.
  284. Karim Saba Genomic and Transcriptomic Analyses of Osteogenic Tumours of Bone. 2020.
  285. Richard Zapata-Dongo, Oween Paul, Sanchez Ramos Immunophenotype, cytogenetic and molecular characterization of 19 cases reported in Mitelman database with t(16;21)(q24;q22) in acute myeloid leukemia and its relation to prognosis The MCL1 inhibitor S63845 in combination with the histone deacetylase inhi. EuroLeuk 2020. 2020. doi:10.13140/RG.2.2.34383.71845.
  286. I Brunetti, M.; Zeller, B.;Tierens, A.;Heim, S.;Micci, F.; Panagopoulos TYRO3 Truncation Resulting From a t(10;15)(p11;q15) Chromosomal Translocation in Pediatric Acute Myeloid Leukemia. Anticancer Research. 2020.
  287. Sinhue Alejandro Brukman-Jimenez, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, et al. Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis. Molecular Cytogenetics. 2020. doi:10.1186/s13039-020-00509-y, issn: 1755-8166.
  288. Subhajit Pal, Sudip Mondal, Gourab Das, et al. Big data in biology: The hope and present-day challenges in it. Gene Reports. 2020. doi:10.1016/j.genrep.2020.100869, issn: 24520144.
  289. Grazia Visci, Doron Tolomeo, Antonio Agostini, et al. CircRNAs and Fusion-circRNAs in cancer: New players in an old game. Cellular Signalling. 2020. doi:10.1016/j.cellsig.2020.109747, pmid: 32860952, issn: 18733913.
  290. Ludmila Gorunova, Bodil Bjerkehagen, Francesca Micci, et al. Cytogenetic and Molecular Study of an Adult Sclerosing Rhabdomyosarcoma of the Extremity: MYOD1-mutation and Clonal Evolution. Cancer genomics & proteomics. 2020. doi:10.21873/cgp.20212, pmid: 32859634, issn: 17906245.
  291. Paul Mischel Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers | Nature Research Cancer Community. Nature Cancer Community. 2020.
  292. J A Eddy, V Thorsson, A E Lamb, et al. CRI iAtlas: an interactive portal for immuno-oncology research [version 1; peer review: awaiting peer review]. F1000Research. 2020. doi:10.12688/f1000research.25141.1.
  293. Yasuyo Teramura, Miwa Tanaka, Yukari Yamazaki, et al. Identification of Novel Fusion Genes in Bone and Soft Tissue Sarcoma and Their Implication in the Generation of a Mouse Model. Cancers. 2020. doi:10.3390/cancers12092345, issn: 2072-6694.
  294. Hoon Kim, Nam Phuong Nguyen, Kristen Turner, et al. Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers. Nature Genetics. 2020. doi:10.1038/s41588-020-0678-2, issn: 15461718.
  295. Brendan Donaldson Reciprocal Chromosome Translocations in the Domestic Pig, the Prevalence, Genetic and Genomic Factors Associated with Breakpoint Formation. 2020.
  296. Mariano Miller, Konstatine; Heslop-Harrison, J.S; Madan, Kamlesh; Rocchi Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. European Cytogenetics Association Newsletter. 2020.
  297. Toshihiro Matsukawa, Peter D. Aplan Clinical and Molecular Consequences of Fusion Genes in Myeloid Malignancies. STEM CELLS. 2020. doi:10.1002/stem.3263, issn: 10665099.
  298. IOANNIS Panagopoulos, Ludmila GORUNOVA, INGVILD Lobmaier, et al. Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation. Cancer Genomics - Proteomics. 2020. doi:10.21873/cgp.20197, pmid: 32576583, issn: 17906245.
  299. Manja Meggendorfer, Wencke Walter, Torsten Haferlach WGS and WTS in leukaemia: A tool for diagnostics?. Best Practice & Research Clinical Haematology. 2020. doi:10.1016/j.beha.2020.101190, issn: 15216926.
  300. Therese Wilhelm, Maha Said, Valeria Naim DNA Replication Stress and Chromosomal Instability: Dangerous Liaisons.. Genes. 2020. doi:10.3390/genes11060642, pmid: 32532049, issn: 2073-4425.
  301. Anouchka P. Laurent, Rishi S. Kotecha, Sébastien Malinge Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome. Leukemia. 2020. doi:10.1038/s41375-020-0854-5, issn: 0887-6924.
  302. Erik Ziegler, Trinity Urban, Danny Brown, et al. Open Health Imaging Foundation Viewer: An Extensible Open-Source Framework for Building Web-Based Imaging Applications to Support Cancer Research. JCO Clinical Cancer Informatics. 2020. doi:10.1200/CCI.19.00131, issn: 2473-4276.
  303. Andrea Biloglav, Linda Olsson‐Arvidsson, Johan Theander, et al. SFPQ‐ABL1 ‐positive B‐cell precursor acute lymphoblastic leukemias. Genes, Chromosomes and Cancer. 2020. doi:10.1002/gcc.22852, pmid: 32306475, issn: 1045-2257.
  304. Georgia Lazarou, Vijayalakshmi Chelliah, Ben G. Small, et al. Integration of Omics Data Sources to Inform Mechanistic Modeling of Immune-Oncology Therapies: A Tutorial for Clinical Pharmacologists. Clinical pharmacology and therapeutics. 2020. doi:10.1002/cpt.1786.
  305. Jan Köster, Elsa Arbajian, Björn Viklund, et al. Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development. Cancer Genetics. 2020. doi:10.1016/j.cancergen.2019.12.001, issn: 22107770.
  306. Gregory D. Poore, Evguenia Kopylova, Qiyun Zhu, et al. Microbiome analyses of blood and tissues suggest cancer diagnostic approach. Nature. 2020. doi:10.1038/s41586-020-2095-1, issn: 14764687.
  307. Elsa Arbajian, Jakob Hofvander, Linda Magnusson, et al. Deep sequencing of myxoinflammatory fibroblastic sarcoma. Genes Chromosomes and Cancer. 2020. doi:10.1002/gcc.22832.
  308. Ginny X.L. Li, Dan Munro, Damian Fermin, et al. A protein-centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomes. Human Mutation. 2020. doi:10.1002/humu.23979, issn: 10981004.
  309. Jakob Hofvander, Vickie Y. Jo, Christopher D.M. Fletcher, et al. PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells. Modern Pathology. 2020. doi:10.1038/s41379-020-0457-8.
  310. Katsuya Yamamoto, Kimikazu Yakushijin, Mitsuhiro Ito, et al. MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes. Cancer Genetics. 2020. doi:10.1016/j.cancergen.2020.01.049.
  311. Neetha Nanoth Vellichirammal, Abrar Albahrani, Jasjit K. Banwait, et al. Pan-Cancer Analysis Reveals the Diverse Landscape of Novel Sense and Antisense Fusion Transcripts. Molecular Therapy - Nucleic Acids. 2020. doi:10.1016/j.omtn.2020.01.023, issn: 21622531.
  312. Buyun Zhang Colorectal cancer predictive test using germ-line DNA data and multiple machine learning methods. 2019.
  313. Jia Xin Yu, Vanessa M. Hubbard-Lucey, Jun Tang Immuno-oncology drug development goes global. Nature Reviews Drug Discovery. 2019. doi:10.1038/d41573-019-00167-9, pmid: 31780841, issn: 14741784.
  314. Maxim Vaysburd Identifying Epigenetic Signature of Breast Cancer with Machine Learning. arXiv. 2019. arxiv: 1910.06899.
  315. Robert L Grossman Data Lakes, Clouds, and Commons: A Review of Platforms for Analyzing and Sharing Genomic Data. Trends in Genetics. 2019. doi:10.1016/j.tig.2018.12.006, pmid: 30691868, issn: 13624555.
  316. GF Gao, JS Parker, SM Reynolds, et al. Before and after: Comparison of legacy and harmonized TCGA genomic data commons' data. Cell systems. 2019.
  317. Mustafa Solmaz, Adam Lane, Bilal Gonen, et al. Graphical data mining of cancer mechanisms with SEMA. Bioinformatics. 2019. doi:10.1093/bioinformatics/btz303, issn: 14602059.
  318. Hoon Kim, Nam Nguyen, Kristen Turner, et al. Frequent extrachromosomal oncogene amplification drives aggressive tumors. bioRxiv. 2019. doi:10.1101/859306.
  319. Sung Hee Park, Mattia Brugiolo, Martin Akerman, et al. Differential Functions of Splicing Factors in Mammary Transformation and Breast Cancer Metastasis. Cell Reports. 2019. doi:10.1016/j.celrep.2019.10.110, issn: 22111247.
  320. L Codó Tarraubella Computational Infrastructures for biomolecular research Laia Codó Tarraubella Aquesta tesi doctoral està subjecta a la llicència Reconeixement 4.0. Espanya de Creative Commons. Esta tesis doctoral está sujeta a la licencia Reconocimiento 4.0. España de Cr. 2019.
  321. Maximilian M.L. Knott, Tilman L.B. Hölting, Shunya Ohmura, et al. Targeting the undruggable: exploiting neomorphic features of fusion oncoproteins in childhood sarcomas for innovative therapies. Cancer and Metastasis Reviews. 2019. doi:10.1007/s10555-019-09839-9, issn: 15737233.
  322. Marzia Settino, Mario Cannataro Survey of main tools for querying and analyzing TCGA Data. Proceedings - 2018 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2018. 2019. isbn: 9781538654880, doi: 10.1109/BIBM.2018.8621270.
  323. Shweta Gopaulakrishnan, Samuela Pollack, B. J. Stubbs, et al. Restfulse: A semantically rich interface for cloud-scale genomics with bioconductor [version 1; referees: 2 approved]. F1000Research. 2019. doi:10.12688/f1000research.17518.1, issn: 1759796X.
  324. Kyle Ellrott, Alex Buchanan, Allison Creason, et al. Reproducible biomedical benchmarking in the cloud: Lessons from crowd-sourced data challenges. Genome Biology. 2019. doi:10.1186/s13059-019-1794-0, issn: 1474760X.
  325. Sabine Heitzeneder, Elena Sotillo, Jack F Shern, et al. Pregnancy-Associated Plasma Protein-A (PAPP-A) in Ewing Sarcoma: Role in Tumor Growth and Immune Evasion. Journal of the National Cancer Institute. 2019. doi:10.1093/jnci/djy209, issn: 14602105.
  326. Pinakin Pandya, Minesh Jethva, Eitan Rubin, et al. PICOT binding to chromatin-associated EED negatively regulates cyclin D2 expression by increasing H3K27me3 at the CCND2 gene promoter. Cell Death and Disease. 2019. doi:10.1038/s41419-019-1935-0, issn: 20414889.
  327. Antonella Padella, Giorgia Simonetti, Giulia Paciello, et al. Novel and rare fusion transcripts involving transcription factors and tumor suppressor genes in acute myeloid leukemia. Cancers. 2019. doi:10.3390/cancers11121951, issn: 20726694.
  328. Winnie Fan Genomics and Epidemiological Analysis of Melanoma Laterality. 2018.
  329. Matthew Schwede, Levi Waldron, Samuel C. Mok, et al. The impact of stroma on the discovery of molecular subtypes and prognostic gene signatures in serous ovarian cancer. bioRxiv. 2018. doi:10.1101/496406.
  330. Zhong Wang, Tinyi Chu, Marcus A. Christie, et al. Building a science gateway for processing and modeling sequencing data via apache airavata. ACM International Conference Proceeding Series. 2018. isbn: 9781450364461, doi: 10.1145/3219104.3219141.
  331. Hsinyi Tsang, KanakaDurga Addepalli National Cancer Institute Cloud Resources. 2018. doi:10.1145/3233547.3233671.
  332. Robert L. Grossman Progress Toward Cancer Data Ecosystems. Cancer Journal (United States). 2018. doi:10.1097/PPO.0000000000000318, pmid: 29794537, issn: 1540336X.
  333. Qingsong Gao, Wen Wei Liang, Steven M. Foltz, et al. Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. Cell Reports. 2018. doi:10.1016/j.celrep.2018.03.050, pmid: 29617662, issn: 22111247.
  334. Kuan-lin Huang Multi-omics Portraits of Cancer. Dissertation. 2018.
  335. Vivek Navale, Philip E. Bourne Cloud computing applications for biomedical science: A perspective. PLoS Computational Biology. 2018. doi:10.1371/journal.pcbi.1006144, issn: 15537358.
  336. Jorge Andrade, Suzanne M. Cox, Samuel L. Volchenboum Large-Scale Data Sharing Initiatives in Genomic Oncology. Advances in Molecular Pathology. 2018. doi:10.1016/j.yamp.2018.06.009, issn: 25894080.
  337. Ana C. Decarvalho, Hoon Kim, Laila M. Poisson, et al. Discordant inheritance of chromosomal and extrachromosomal DNA elements contributes to dynamic disease evolution in glioblastoma. Nature Genetics. 2018. doi:10.1038/s41588-018-0105-0, issn: 15461718.
  338. Ben Langmead, Abhinav Nellore Cloud computing for genomic data analysis and collaboration. Nature Reviews Genetics. 2018. doi:10.1038/nrg.2017.113, issn: 14710064.
  339. Zoltan Szallasi An introduction to the computational challenges in next generation sequencing. Communications in Computer and Information Science. 2018. isbn: 9783319965529, doi: 10.1007/978-3-319-96553-6_3, issn: 18650929.
  340. Guy Karlebach, Diogo F.T. Veiga, Anne Deslattes Mays, et al. The impact of sex on alternative splicing. bioRxiv. 2018. doi:10.1101/490904.
  341. Vésteinn Vesteinn Thorsson, David L. Gibbs, Scott D. Brown, et al. The Immune Landscape of Cancer. Immunity. 2018. isbn: 10974180 (Electronic), pmid: 29628290, doi: 10.1016/j.immuni.2018.03.023.
  342. Joel Saltz, Rajarsi Gupta, Le Hou, et al. Spatial Organization and Molecular Correlation of Tumor-Infiltrating Lymphocytes Using Deep Learning on Pathology Images. Cell Reports. 2018. doi:10.1016/j.celrep.2018.03.086, pmid: 29617659, issn: 22111247.
  343. Kyle Ellrott, Matthew H Bailey, Gordon Saksena, et al. Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Systems. 2018. doi:10.1016/j.cels.2018.03.002, pmid: 29596782, issn: 24054720.
  344. Zhuyi Xue, René L. Warren, Ewan A. Gibb, et al. Recurrent tumor-specific regulation of alternative polyadenylation of cancer-related genes. BMC Genomics. 2018. doi:10.1186/s12864-018-4903-7, issn: 14712164.
  345. Kuan lin Huang, R Jay Mashl, Yige Wu, et al. Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018. issn: 10974172, doi: 10.1016/j.cell.2018.03.039, pmid: 29625052.
  346. Izumi V. Hinkson, Tanja M. Davidsen, Juli D. Klemm, et al. A Comprehensive Infrastructure for Big Data in Cancer Research: Accelerating Cancer Research and Precision Medicine. Frontiers in Cell and Developmental Biology. 2017. doi:10.3389/fcell.2017.00083, issn: 2296-634X.
  347. Gustavo Glusman, Peter W. Rose, Andreas Prlić, et al. Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: A proposed framework. Genome Medicine. 2017. doi:10.1186/s13073-017-0509-y, pmid: 29254494, issn: 1756994X.
  348. Sheila M. Reynolds, Michael Miller, Phyliss Lee, et al. The ISB cancer genomics cloud: A flexible cloud-based platform for cancer genomics research. Cancer Research. 2017. doi:10.1158/0008-5472.CAN-17-0617, issn: 15387445.
  349. Lun Ching Chang, Suleyman Vural, Dmitriy Sonkin Detection of homozygous deletions in tumor-suppressor genes ranging from dozen to hundreds nucleotides in cancer models. Human Mutation. 2017. doi:10.1002/humu.23308, issn: 10981004.
  350. Zhuyi Xue, René Warren, Ewan Gibb, et al. Pan-cancer analysis reveals complex tumor-specific alternative polyadenylation. 2017. doi:10.1101/160960.
  351. P. J. Tatlow, Stephen R. Piccolo A cloud-based workflow to quantify transcript-expression levels in public cancer compendia. Scientific reports. 2016. doi:10.1038/srep39259, pmid: 27982081, issn: 20452322.
  352. Wang C, Song H, Chen L, et al. Automatic Liver Segmentation Using Multi-plane Integrated Fully Convolutional Neural Networks. 2018 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). 2018. doi:10.1109/BIBM.2018.8621257.