D
David Altshuler
Researcher at University of Michigan
Publications - 353
Citations - 226195
David Altshuler is an academic researcher from University of Michigan. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 162, co-authored 345 publications receiving 201782 citations. Previous affiliations of David Altshuler include Vertex Pharmaceuticals & Massachusetts Institute of Technology.
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Journal ArticleDOI
Evaluating empirical bounds on complex disease genetic architecture
TL;DR: An integrated simulation framework is developed, calibrated to empirical data, to enable the systematic evaluation of contradictory hypotheses about features of genetic architecture, including those where rare variants explain either little or most of T2D heritability.
Journal ArticleDOI
Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function
Soumya Raychaudhuri,Joshua M. Korn,Joshua M. Korn,Steven A. McCarroll,Steven A. McCarroll,David Altshuler,Pamela Sklar,Pamela Sklar,Shaun Purcell,Shaun Purcell,Mark J. Daly,Mark J. Daly +11 more
TL;DR: A case-control statistical test, cnv-enrichment-test, is proposed to compare the rate of CNVs impacting specific gene sets in cases versus controls, and is demonstrated to be robust to case- control differences in CNV size, CNV rate, and systematic differences in gene size.
Journal ArticleDOI
Role for Msh5 in the regulation of Ig class switch recombination.
Hideharu Sekine,Ricardo C. Ferreira,Qiang Pan-Hammarström,Robert R. Graham,Beth Ziemba,Sandra S. de Vries,Jiabin Liu,Keli L. Hippen,Thearith Koeuth,Ward Ortmann,Akiko Iwahori,Margaret K. Elliott,Steven M. Offer,Cara N. Skon,Likun Du,Jill Novitzke,Annette Lee,Nianxi Zhao,Joshua D. Tompkins,David Altshuler,Peter K. Gregersen,Charlotte Cunningham-Rundles,Reuben S. Harris,Chengtao Her,David L. Nelson,Lennart Hammarström,Gary S. Gilkeson,Timothy W. Behrens +27 more
TL;DR: The findings suggest that Msh4/5 heterodimers contribute to CSR and support a model whereby Msh 4/5 promotes the resolution of DNA breaks with low or no terminal microhomology by a classical nonhomologous end-joining mechanism while possibly suppressing an alternative microHomology-mediated pathway.
Journal ArticleDOI
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Mia M. Gaudet,Tomas Kirchhoff,Todd Green,Joseph Vijai,Joshua M. Korn,Candace Guiducci,Ayellet V. Segrè,Ayellet V. Segrè,Kate McGee,Lesley McGuffog,Christiana Kartsonaki,Jonathan J. Morrison,Sue Healey,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Sylvie Mazoyer,Marion Gauthier-Villars,Hagay Sobol,Michel Longy,Marc Frenay,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Kees E. P. van Roozendaal,Marion Piedmonte,Wendy S. Rubinstein,Stacy Nerenstone,Linda Van Le,Stephanie V. Blank,Trinidad Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittomäki,Conxi Lázaro,Ignacio Blanco,Adalgeir Arason,Oskar T. Johannsson,Rosa B. Barkardottir,Peter Devilee,O. I. Olopade,Susan L. Neuhausen,Xianshu Wang,Zachary S. Fredericksen,Paolo Peterlongo,Siranoush Manoukian,Monica Barile,Alessandra Viel,Paolo Radice,Catherine M. Phelan,Steven A. Narod,Gad Rennert,Flavio Lejbkowicz,Anath Flugelman,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Amanda E. Toland,Marco Montagna,Emma D'Andrea,Eitan Friedman,Yael Laitman,Åke Borg,Mary S. Beattie,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Amanda B. Spurdle,Xiaoqing Chen,Helene Holland,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas Hansen,Finn Cilius Nielsen,Mark I. Greene,Phuong L. Mai,Ana Osorio,Mercedes Durán,Raquel Andrés,Javier Benitez,Jeffrey N. Weitzel,Judy Garber,Ute Hamann,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Radka Platte,D. Gareth Evans,Fiona Lalloo,Ros Eeles,Louise Izatt,Lisa Walker,Jacqueline Eason,Julian Barwell,Andrew K. Godwin,Rita K. Schmutzler,Barbara Wappenschmidt,Stefanie Engert,Norbert Arnold,Dorothea Gadzicki,Michael Dean,Bert Gold,Robert J. Klein,Fergus J. Couch,Georgia Chenevix-Trench,Douglas F. Easton,Mark J. Daly,Antonis C. Antoniou,David Altshuler,Kenneth Offit +116 more
TL;DR: Results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCa2 wild-type breast cancer.
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Mia M. Gaudet,Tomas Kirchhoff,Todd Green,Joseph Vijai,Joshua M. Korn,Candace Guiducci,Ayellet V. Segrè,Kate McGee,Lesley McGuffog,Christiana Kartsonaki,Jonathan J. Morrison,Sue Healey,Olga M. Sinilnikova,Dominique Stoppa-Lyonnet,Sylvie Mazoyer,Marion Gauthier-Villars,Hagay Sobol,Michel Longy,Marc Frenay,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Kees E. P. van Roozendaal,Marion Piedmonte,Wendy S. Rubinstein,Stacy Nerenstone,Linda Van Le,Stephanie V. Blank,Trinidad Caldés,Miguel de la Hoya,Heli Nevanlinna,Kristiina Aittomäki,Conxi Lázaro,Ignacio Blanco,Adalgeir Arason,Oskar T. Johannsson,Rosa B. Barkardottir,Peter Devilee,O. I. Olopade,Susan L. Neuhausen,Xianshu Wang,Zachary S. Fredericksen,Paolo Peterlongo,Siranoush Manoukian,Monica Barile,Alessandra Viel,Paolo Radice,Catherine M. Phelan,Steven A. Narod,Gad Rennert,Flavio Lejbkowicz,Anath Flugelman,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Amanda E. Toland,Marco Montagna,Emma D'Andrea,Eitan Friedman,Yael Laitman,Åke Borg,Mary S. Beattie,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Amanda B. Spurdle,Xiaoqing Chen,Helene Holland,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas Hansen,Finn Cilius Nielsen,Mark I. Greene,Phuong L. Mai,Ana Osorio,Mercedes Durán,Raquel Andrés,Javier Benitez,Jeffrey N. Weitzel,Judy Garber,Ute Hamann,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Radka Platte,D. Gareth Evans,Fiona Lalloo,Ros Eeles,Louise Izatt,Lisa Walker,Jacqueline Eason,Julian Barwell,Andrew K. Godwin,Rita K. Schmutzler,Barbara Wappenschmidt,Stefanie Engert,Norbert Arnold,Dorothea Gadzicki,Michael Dean,Bert Gold,Robert J. Klein,Fergus J. Couch,Georgia Chenevix-Trench,Douglas F. Easton,Mark J. Daly,Antonis C. Antoniou,David Altshuler,Kenneth Offit +115 more