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• TULIPs decorate the three-dimensional genome of PFA ependymoma

  Study EGAS00001005476

• The effects of inhaled corticosteroids on healthy airways

  Study EGAS00001007538

• A critical spotlight on the paradigms of FFPE-DNA sequencing

  Study EGAS00001005757

• DNA methylation profiles of samples included in the EORTC 26091 TAVAREC trial

  Study EGAS00001006015

• Measuring the Efficiency of Purging by Nonrandom Mating in Human Populations

  Study EGAS00001007831

• CeD_meta_analysis

  Results of the celiac diease meta-analysis

  Dataset EGAD00010001770

• CeD_Argentina_1

  Association results from the Agentinian cohort one

  Dataset EGAD00010001768

• EGAD00000000060

  Samples from the UK Glomerulonephritis DNA bank

  Dataset EGAD00000000060

• Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing

  EGFR-mutant lung adenocarcinomas (LUAD) display diverse clinical trajectories and are characterized by rapid but short-lived responses to EGFR tyrosine kinase inhibitors (TKIs). Through sequencing of 79 spatially distinct regions from 16 early stage tumors, we show that despite low mutation burdens, EGFR-mutant Asian LUADs unexpectedly exhibit a complex genomic landscape with frequent and early whole genome doubling, aneuploidy and high clonal diversity. Multiple truncal alterations, including TP53 mutations and loss of CDKN2A and RB1, converge on cell cycle dysregulation, with late sector-specific high amplitude amplifications and deletions that potentially beget drug resistant clones. We highlight the association between genomic architecture and clinical phenotypes, such as co-occurring truncal drivers and primary TKI resistance. Through comparative analysis with published smoking-related LUAD, we postulate that the high intra-tumor heterogeneity observed in Asian EGFR-mutant LUAD may be contributed by an early dominant driver, genomic instability and low background mutation rates.

  Study EGAS00001001736

• Data Access Policy of the HCEMM - Semmelweis University, Molecular Oncohematology Research Group

  Dac EGAC00001003240

• The University of Hong Kong Gastric Cancer Exome Sequencing Project Data Access Committee

  Dac EGAC00001000032

• Cancer genomics project, the University of Tokyo Data Access Committee

  Dac EGAC00001000087

• Data access committee of the Prostate Cancer Research Center, University of Tampere, Finland.

  Dac EGAC00001000423

• The Chinese University of Hong Kong Hereditary Spastic Paraplegia Data Access Committee

  Dac EGAC00001000493

• The evolutionary history of human colitis-associated colorectal cancer

  Dac EGAC00001000917

• The molecular landscape of glioma in patients with Neurofibromatosis 1

  Dac EGAC00001001004

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002557

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002696

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002697

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002723

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002732

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002815

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001002879

• The Chinese University of Hong Kong (CUHK) Circulating Nucleic Acids Research Group (CNARG)

  Dac EGAC00001003017

• The Multiomics Blueprint of Extreme Human Lifespan

  Dac EGAC50000000515