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
A likelihood-based framework for variant calling and de novo mutation detection in families.
Bingshan Li,Wei Chen,Xiaowei Zhan,Fabio Busonero,Serena Sanna,Carlo Sidore,Francesco Cucca,Hyun Min Kang,Gonçalo R. Abecasis +8 more
TL;DR: A likelihood-based framework for analysis of next generation sequence data in family samples that is able to identify variant sites accurately and to assign individual genotypes, and can handle de novo mutation events, increasing the sensitivity and specificity of variant calling and de noVO mutation detection.
Journal ArticleDOI
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
Vincenza Colonna,Qasim Ayub,Yuan Chen,Luca Pagani,Pierre Luisi,Marc Pybus,Erik Garrison,Yali Xue,Chris Tyler-Smith,Gonçalo R. Abecasis,Adam Auton,Lisa D Brooks,Mark A DePristo,Richard Durbin,Robert E Handsaker,Hyun Min Kang,Gabor T. Marth,Gil McVean +17 more
TL;DR: It is demonstrated that while sites with low differentiation represent sampling effects rather than balancing selection, sites showing extremely high population differentiation are enriched for positive selection events and that one half may be the result of classic selective sweeps.
Journal ArticleDOI
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
Reecha Sofat,Juan P. Casas,Juan P. Casas,Andrew R. Webster,Andrew R. Webster,Alan C. Bird,Alan C. Bird,Samantha Mann,John R.W. Yates,John R.W. Yates,John R.W. Yates,Anthony T. Moore,Anthony T. Moore,T. Sepp,Valentina Cipriani,Valentina Cipriani,Catey Bunce,Jane C. Khan,Humma Shahid,Anand Swaroop,Anand Swaroop,Gonçalo R. Abecasis,Kari Branham,Sepideh Zareparsi,Arthur A.B. Bergen,Caroline C W Klaver,Dominique C Baas,Kang Zhang,Kang Zhang,Yuhong Chen,Yuhong Chen,Daniel Gibbs,Bernhard H. F. Weber,Claudia N. Keilhauer,Lars G. Fritsche,Andrew J. Lotery,Angela J. Cree,Helen Griffiths,Shomi S. Bhattacharya,Shomi S. Bhattacharya,Li L Chen,Li L Chen,Sharon Jenkins,Sharon Jenkins,Tunde Peto,Tunde Peto,Mark Lathrop,Thierry Léveillard,Michael B. Gorin,Daniel E. Weeks,Maria Carolina Ortube,Robert E. Ferrell,Johanna Jakobsdottir,Yvette P. Conley,Mati Rahu,Johan H. Seland,Gisèle Soubrane,Fotis Topouzis,Jesús Vioque,Laura Tomazzoli,Ian S. Young,John C. Whittaker,John C. Whittaker,Usha Chakravarthy,Paulus T. V. M. de Jong,Liam Smeeth,Astrid E. Fletcher,Aroon D. Hingorani +67 more
TL;DR: The Y402H variant confers a 2-fold higher risk of late-AMD per copy in individuals of European descent and was stable to stratification by study design and AMD classification and not modified by smoking.
Journal ArticleDOI
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
Anubha Mahajan,Xueling Sim,Hui Jin Ng,Alisa K. Manning,Manuel A. Rivas,Heather M. Highland,Adam E. Locke,Niels Grarup,Hae Kyung Im,Pablo Cingolani,Jason Flannick,Pierre Fontanillas,Christian Fuchsberger,Kyle J. Gaulton,Tanya M. Teslovich,N. William Rayner,Neil R. Robertson,Nicola L. Beer,Jana K. Rundle,Jette Bork-Jensen,Claes Ladenvall,Christine Blancher,David Buck,Gemma Buck,Noël P. Burtt,Stacey Gabriel,Anette P. Gjesing,Christopher J. Groves,Mette Hollensted,Jeroen R. Huyghe,Anne U. Jackson,Goo Jun,Johanne Marie Justesen,Massimo Mangino,Jacquelyn Murphy,Matt J. Neville,Robert C. Onofrio,Kerrin S. Small,Heather M. Stringham,Ann-Christine Syvänen,Joseph Trakalo,Gonçalo R. Abecasis,Graeme I. Bell,John Blangero,Nancy J. Cox,Ravindranath Duggirala,Craig L. Hanis,Mark Seielstad,James G. Wilson,Cramer Christensen,Ivan Brandslund,Rainer Rauramaa,Gabriela L. Surdulescu,Alex S. F. Doney,Lars Lannfelt,Allan Linneberg,Bo Isomaa,Tiinamaija Tuomi,Marit E. Jørgensen,Torben Jørgensen,Johanna Kuusisto,Matti Uusitupa,Veikko Salomaa,Tim D. Spector,Andrew D. Morris,Colin N. A. Palmer,Francis S. Collins,Karen L. Mohlke,Richard N. Bergman,Erik Ingelsson,Lars Lind,Jaakko Tuomilehto,Torben Hansen,Richard M. Watanabe,Inga Prokopenko,Josée Dupuis,Fredrik Karpe,Leif Groop,Markku Laakso,Oluf Pedersen,Jose C. Florez,Andrew P. Morris,David Altshuler,James B. Meigs,Michael Boehnke,Mark I. McCarthy,Cecilia M. Lindgren,Anna L. Gloyn +87 more
TL;DR: In this article, the authors analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry and identified multiple coding variants in G6PC2 (p.Val219Leu, p.His177Tyr, and p.Tyr207Ser) influencing FG levels, conditionally independent of each other and the non-coding GWAS signal.
Journal ArticleDOI
Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients.
Matthew Patrick,Philip E. Stuart,Kalpana Raja,Kalpana Raja,Johann E. Gudjonsson,Trilokraj Tejasvi,Trilokraj Tejasvi,Jingjing Yang,Jingjing Yang,Vinod Chandran,Sayantan Das,Kristina Callis-Duffin,Eva Ellinghaus,Charlotta Enerbäck,Tõnu Esko,Tõnu Esko,Andre Franke,Hyun Min Kang,Gerald G. Krueger,Henry W. Lim,Proton Rahman,Cheryl F. Rosen,Stephan Weidinger,Michael Weichenthal,Xiaoquan Wen,John J. Voorhees,Gonçalo R. Abecasis,Dafna D. Gladman,Rajan P. Nair,James T. Elder,James T. Elder,Lam C. Tsoi +31 more
TL;DR: A computational pipeline involving statistical and machine-learning methods that can assess the risk of progression to PsA based on genetic markers is developed and it is shown that the underlying genetic differences between psoriasis subtypes can be used for individualized subtype risk assessment.