G
Gonçalo R. Abecasis
Researcher at University of Michigan
Publications - 629
Citations - 271012
Gonçalo R. Abecasis 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 179, co-authored 595 publications receiving 230323 citations. Previous affiliations of Gonçalo R. Abecasis include Johns Hopkins University School of Medicine & Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
Optimal sequencing strategies for identifying disease-associated singletons
TL;DR: Sequencing depth of 15-20x is suggested as an appropriate compromise of singleton detection power and sample size for studies of rare variants in complex disease.
Journal ArticleDOI
Methods for Association Analysis and Meta‐Analysis of Rare Variants in Families
Shuang Feng,Giorgio Pistis,He Zhang,Matthew Zawistowski,Antonella Mulas,Magdalena Zoledziewska,Oddgeir L. Holmen,Fabio Busonero,Serena Sanna,Kristian Hveem,Kristian Hveem,Cristen J. Willer,Francesco Cucca,Dajiang J. Liu,Gonçalo R. Abecasis +14 more
TL;DR: This work describes situations where family‐based studies provide greater power than studies of unrelated individuals to detect rare variants associated with moderate to large changes in trait values and finds that when sample sizes are limited and only a modest fraction of all trait‐associated variants can be identified, family samples are more powerful.
Journal ArticleDOI
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
Yao Hu,Adrienne M. Stilp,Caitlin P. McHugh,Shuquan Rao,Deepti Jain,Xiuwen Zheng,John Lane,Sébastian Méric de Bellefon,Laura M. Raffield,Ming-Huei Chen,Lisa R. Yanek,Marsha M. Wheeler,Yao Yao,Chunyan Ren,Jai G. Broome,Jee-Young Moon,Paul S. de Vries,Brian D. Hobbs,Quan Sun,Praveen Surendran,Jennifer A. Brody,Thomas W. Blackwell,Hélène Choquet,Kathleen A. Ryan,Ravindranath Duggirala,Nancy L. Heard-Costa,Nancy L. Heard-Costa,Zhe Wang,Nathalie Chami,Michael Preuss,Nancy Min,Lynette Ekunwe,Leslie A. Lange,Mary Cushman,Nauder Faraday,Joanne E. Curran,Laura Almasy,Kousik Kundu,Kousik Kundu,Albert V. Smith,Stacey Gabriel,Jerome I. Rotter,Myriam Fornage,Donald M. Lloyd-Jones,Ramachandran S. Vasan,Nicholas L. Smith,Nicholas L. Smith,Nicholas L. Smith,Kari E. North,Eric Boerwinkle,Lewis C. Becker,Joshua P. Lewis,Gonçalo R. Abecasis,Lifang Hou,Jeffrey R. O'Connell,Alanna C. Morrison,Terri H. Beaty,Robert C. Kaplan,Adolfo Correa,John Blangero,Eric Jorgenson,Bruce M. Psaty,Bruce M. Psaty,Charles Kooperberg,Russell T. Walton,Benjamin P. Kleinstiver,Hua Tang,Ruth J. F. Loos,Nicole Soranzo,Adam S. Butterworth,Deborah A. Nickerson,Stephen S. Rich,Braxton D. Mitchell,Andrew D. Johnson,Paul L. Auer,Yun Li,Rasika A. Mathias,Guillaume Lettre,Guillaume Lettre,Nathan Pankratz,Cathy C. Laurie,Cecelia A. Laurie,Daniel E. Bauer,Matthew P. Conomos,Alexander P. Reiner +84 more
TL;DR: In this paper, the authors leveraged whole-genome sequencing (WGS) data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC) quantitative traits.
Journal ArticleDOI
eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues.
Jinyan Huang,Jun Chen,Jorge Esparza,Jun Ding,James T. Elder,Gonçalo R. Abecasis,Young-Ae Lee,G. Mark Lathrop,Miriam F. Moffatt,William O.C.M. Cookson,Liming Liang +10 more
TL;DR: New insights are provided into the underlying genetic architecture of gene expression across tissues and a new resource to interpret function of diseases and traits associated structure variants is provided.
Posted ContentDOI
Genetic architectures of proximal and distal colorectal cancer are partly distinct
Jeroen R. Huyghe,Tabitha A. Harrison,Stephanie A. Bien,Heather Hampel,Jane C. Figueiredo,Jane C. Figueiredo,Stephanie L. Schmit,David V. Conti,Sai Chen,Conghui Qu,Yi Lin,Richard Barfield,John A. Baron,Amanda J. Cross,Brenda Diergaarde,David Duggan,Sophia Harlid,Liher Imaz,Hyun Min Kang,David M. Levine,Vittorio Perduca,Vittorio Perduca,Aurora Perez-Cornago,Lori C. Sakoda,Lori C. Sakoda,Fredrick R. Schumacher,Martha L. Slattery,Amanda E. Toland,Fränzel J.B. Van Duijnhoven,Bethany Van Guelpen,Volker Arndt,Antonio Agudo,Demetrius Albanes,M. Henar Alonso,Kristin E. Anderson,Coral Arnau-Collell,Barbara L. Banbury,Michael C. Bassik,Sonja I. Berndt,Stéphane Bézieau,D. Timothy Bishop,Juergen Boehm,Heiner Boeing,Marie-Christine Boutron-Ruault,Hermann Brenner,Stefanie Brezina,Stephan Buch,Daniel D. Buchanan,Daniel D. Buchanan,Andrea N. Burnett-Hartman,Bette J. Caan,Peter T. Campbell,Prudence R. Carr,Antoni Castells,Sergi Castellví-Bel,Andrew T. Chan,Jenny Chang-Claude,Jenny Chang-Claude,Stephen J. Chanock,Keith R. Curtis,Albert de la Chapelle,Douglas F. Easton,Dallas R. English,Dallas R. English,Edith J. M. Feskens,Manish Gala,Steven Gallinger,W. James Gauderman,Graham G. Giles,Graham G. Giles,Phyllis J. Goodman,William M. Grady,John S. Grove,Andrea Gsur,Marc J. Gunter,Robert W. Haile,Jochen Hampe,Michael Hoffmeister,John L. Hopper,John L. Hopper,Wan-Ling Hsu,Wen-Yi Huang,Thomas J. Hudson,Mazda Jenab,Mark A. Jenkins,Amit Joshi,Temitope O. Keku,Charles Kooperberg,Tilman Kühn,Sébastien Küry,Loic Le Marchand,Flavio Lejbkowicz,Christopher I. Li,Li Li,Wolfgang Lieb,Annika Lindblom,Annika Lindblom,Noralane M. Lindor,Satu Männistö,Sanford D. Markowitz,Roger L. Milne,Roger L. Milne,Lorena Moreno,Neil Murphy,Rami Nassir,Kenneth Offit,Kenneth Offit,Shuji Ogino,Salvatore Panico,Patrick S. Parfrey,Rachel Pearlman,Paul D.P. Pharoah,Amanda I. Phipps,Amanda I. Phipps,Elizabeth A. Platz,John D. Potter,Ross L. Prentice,Lihong Qi,Leon Raskin,Gad Rennert,Hedy S. Rennert,Elio Riboli,Clemens Schafmayer,Robert E. Schoen,Daniela Seminara,Mingyang Song,Yu-Ru Su,Catherine M. Tangen,Stephen N. Thibodeau,Duncan C. Thomas,Antonia Trichopoulou,Cornelia M. Ulrich,Kala Visvanathan,Pavel Vodicka,Pavel Vodicka,Pavel Vodicka,Ludmila Vodickova,Ludmila Vodickova,Ludmila Vodickova,Veronika Vymetalkova,Veronika Vymetalkova,Veronika Vymetalkova,Korbinian Weigl,Korbinian Weigl,Stephanie J. Weinstein,Emily White,Alicja Wolk,Michael O. Woods,Anna H. Wu,Gonçalo R. Abecasis,Deborah A. Nickerson,Peter C. Scacheri,Anshul Kundaje,Graham Casey,Stephen B. Gruber,Li Hsu,Li Hsu,Victor Moreno,Richard B. Hayes,Polly A. Newcomb,Polly A. Newcomb,Ulrike Peters,Ulrike Peters +162 more
TL;DR: Genetic architectures of proximal and distal CRC are partly distinct, and studies of risk factors and mechanisms of carcinogenesis, and precision prevention strategies should take into consideration the anatomical subsite of the tumor.