Design considerations for massively parallel sequencing studies of complex human disease. by Bing-Jian Feng, Sean V Tavtigian, Melissa C Southey, David E Goldgar

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Functional impact of missense variants in BRCA1 predicted by supervised learning. by Rachel Karchin, Alvaro N A Monteiro, Sean V Tavtigian, Marcelo A Carvalho, Andrej Sali

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Mobile element insertions and associated structural variants in longitudinal breast cancer samples by Cody J. Steely, Kristi L. Russell, Julie E. Feusier, Yi Qiao, Sean V. Tavtigian, Gabor Marth, Lynn B. Jorde

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Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors. by Hector Hernandez-Vargas, Marie-Pierre Lambert, Florence Le Calvez-Kelm, Géraldine Gouysse, Sandrine McKay-Chopin, Sean V Tavtigian, Jean-Yves Scoazec, Zdenko Herceg

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FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor by Lisa A. Cannon‐Albright, Craig C. Teerlink, Jeffrey Stevens, Angela K. Snow, Bryony A. Thompson, Russell Bell, Kim N. Nguyen, Nykole R. Sargent, Wendy K. Kohlmann, Deborah W. Neklason, Sean V. Tavtigian

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Pancreatic cancer as a sentinel for hereditary cancer predisposition by Erin L. Young, Bryony A. Thompson, Deborah W. Neklason, Matthew A. Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh Neumayer, David E. Goldgar, Sean J. Mulvihill, Lisa A. Cannon-Albright, Sean V. Tavtigian

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ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. by Anne-Laure Renault, Fabienne Lesueur, Yan Coulombe, Stéphane Gobeil, Penny Soucy, Yosr Hamdi, Sylvie Desjardins, Florence Le Calvez-Kelm, Maxime Vallée, Catherine Voegele, Breast Cancer Family Registry, John L Hopper, Irene L Andrulis, Melissa C Southey, Esther M John, Jean-Yves Masson, Sean V Tavtigian, Jacques Simard

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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation by Bryony A. Thompson, Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops

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