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Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2016, Volume 48, Issue 6, pp. 600 - 606
Alterations in DNA repair pathways are common in tumors and can result in characteristic mutational signatures; however, a specific mutational signature... 
BLADDER-CANCER | WHOLE-GENOME | POLYMORPHISMS | URINARY-BLADDER | TRANSCRIPTION | GENETICS & HEREDITY | DNA-REPAIR GENES | SMOKING | ADDUCTS | ARISTOLOCHIC ACID | DAMAGE | Research | Gene mutations | DNA repair | Analysis | Urinary tract cancer | Data analysis | DNA damage | Genes | Oncology | Genomes | Cancer therapies | Consortia | Tobacco | Mutation | Signatures | Deoxyribonucleic acid--DNA | Methods | Tumors | Cancer | Smoking | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 07/2017, Volume 547, Issue 7661, pp. 55 - 60
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1476 - 1486
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 3756 - 3756
Abstract INTRODUCTION Bleeding from thrombocytopathy is a common complication of advanced chronic lymphocytic leukaemia (CLL). In addition to disease-related... 
Journal Article
Nature Communications, ISSN 2041-1723, 2012, Volume 3, Issue 1, p. 660
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 824 - 828
Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress... 
FRAMEWORK | ASSOCIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENOME | GENETICS & HEREDITY | Colon cancer | Aging | Tumor suppressor genes | Breast cancer | Heredity | Colon | Variation | Deoxyribonucleic acid--DNA | Cancer
Journal Article
by Raphael, Benjamin J and Hruban, Ralph H and Aguirre, Andrew J and Moffitt, Richard A and Yeh, Jen Jen and Stewart, Chip and Robertson, A. Gordon and Cherniack, Andrew D and Gupta, Manaswi and Getz, Gad and Gabriel, Stacey B and Meyerson, Matthew and Cibulskis, Carrie and Fei, Suzanne S and Hinoue, Toshinori and Shen, Hui and Laird, Peter W and Ling, Shiyun and Lu, Yiling and Mills, Gordon B and Akbani, Rehan and Loher, Phillipe and Londin, Eric R and Rigoutsos, Isidore and Telonis, Aristeidis G and Gibb, Ewan A and Goldenberg, Anna and Mezlini, Aziz M and Hoadley, Katherine A and Collisson, Eric and Lander, Eric and Murray, Bradley A and Hess, Julian and Rosenberg, Mara and Bergelson, Louis and Zhang, Wei and Zhang, Hailei and Zhang, Jiashan (Julia) and Zhang, Lizhi and Cho, Juok and Tiao, Grace and Kim, Seong Hoon and Kim, Hark and Kim, Jaegil and Kim, Paula and Kim, Yong Hoon and Livitz, Dimitri and Leshchiner, Ignaty and Reardon, Brendan and Van Allen, Eliezer and Kamburov, Atanas and Beroukhim, Rameen and Saksena, Gordon and Schumacher, Steven E and Noble, Michael S and Heiman, David I and Gehlenborg, Nils and Lawrence, Michael S and Adsay, Volkan and Petersen, Gloria and Klimstra, David and Bardeesy, Nabeel and Leiserson, Mark D.M and Bowlby, Reanne and Kasaian, Katayoon and Birol, Inanc and Mungall, Andrew J and Mungall, Karen L and Sadeghi, Sara and Weinstein, John N and Spellman, Paul T and Liu, Yuexin and Liu, Jia and Amundadottir, Laufey T and Tepper, Joel and Singhi, Aatur D and Dhir, Rajiv and Paul, Drwiega and Smyrk, Thomas and Bowen, Jay and Frick, Jessica and Gastier-Foster, Julie M and Gerken, Mark and Lau, Kevin and Leraas, Kristen M and Lichtenberg, Tara M and Ramirez, Nilsa C and Renkel, Jeremy and Sherman, Mark and Wise, Lisa and Yena, Peggy and Zmuda, Erik and Shih, Juliann and Ally, Adrian and Balasundaram, Miruna and Carlsen, Rebecca and Chu, Andy and Chuah, Eric and Clarke, Amanda and Dhalla, Noreen and ... and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network. Electronic address: andrew_aguirre@dfci.harvard.edu and Cancer Genome Atlas Research Network
Cancer Cell, ISSN 1535-6108, 08/2017, Volume 32, Issue 2, pp. 185 - 203.e13
Journal Article