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
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Carlo Sidore,Valeria Orrù,Eleonora Cocco,Maristella Steri,Jamie Inshaw,Maristella Pitzalis,Antonella Mulas,Stuart J. McGurnaghan,Jessica Frau,Eleonora Porcu,Fabio Busonero,Mariano Dei,Sandra Lai,Gabriella Sole,Francesca Virdis,Valentina Serra,Fausto Pier'Angelo Poddie,Alessandro P Delitala,Michele Marongiu,Francesca Deidda,Mauro Pala,Matteo Floris,Marco Masala,Suna Onengut-Gumuscu,Catherine C. Robertson,Lidia Leoni,Annapaola Frongia,Maria Rossella Ricciardi,Margherita Chessa,Nazario Olla,Mario Lovicu,Annalisa Loizedda,Andrea Maschio,Luisa Mereu,Paola Ferrigno,Nicolò Curreli,Lenuta Balaci,Francesco Loi,Liana Ap Ferreli,Maria Grazia Pilia,Antonello Pani,Maria Giovanna Marrosu,Gonçalo R. Abecasis,Stephen S. Rich,Helen M. Colhoun,John A. Todd,David Schlessinger,Edoardo Fiorillo,Francesco Cucca,Magdalena Zoledziewska +49 more
TL;DR: It is reported that PRF1:p.A91V, is associated with increase of lymphocyte levels, especially within the cytotoxic memory T-cells, at general population level with reduced interleukin 7 receptor expression on these cells.
Journal ArticleDOI
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis.
Corbin Quick,Corbin Quick,Xiaoquan Wen,Gonçalo R. Abecasis,Gonçalo R. Abecasis,Michael Boehnke,Hyun Min Kang +6 more
TL;DR: A statistical framework and computational tool is presented to integrate heterogeneous annotations with GWAS summary statistics for gene-based analysis, applied with comprehensive coding and tissue-specific regulatory annotations, and it is found that incorporating heterogeneous Annotations in gene- based association analysis increases power and performance identifying causal genes.
Journal ArticleDOI
emeraLD: rapid linkage disequilibrium estimation with massive datasets.
Corbin Quick,Christian Fuchsberger,Christian Fuchsberger,Christian Fuchsberger,Daniel Taliun,Gonçalo R. Abecasis,Michael Boehnke,Hyun Min Kang +7 more
TL;DR: Efficient Methods for Estimation and Random Access of LD (EMeraLD) as mentioned in this paper is a computational tool that leverages sparsity and haplotype structure to estimate LD up to 2 orders of magnitude faster than current tools.
Journal ArticleDOI
Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.
Aniruddh P. Patel,Aniruddh P. Patel,Gina M. Peloso,Gina M. Peloso,James P. Pirruccello,James P. Pirruccello,Christopher T. Johansen,Joseph B. Dubé,Daniel B. Larach,Matthew R. Ban,Geesje M. Dallinge-Thie,Namrata Gupta,Michael Boehnke,Gonçalo R. Abecasis,John J.P. Kastelein,G. Kees Hovingh,Robert A. Hegele,Daniel J. Rader,Sekar Kathiresan,Sekar Kathiresan +19 more
TL;DR: After sequencing genes from 95 GWAS loci in participants with extremely high plasma lipid levels, one new coding variant is identified associated with TG, providing insight regarding design of similar sequencing studies with respect to sample size, follow-up, and analysis methodology.
Posted ContentDOI
Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
Wei Zhou,Jonas B. Nielsen,Lars G. Fritsche,Jonathon LeFaive,Sarah A Gagliano Taliun,Wenjian Bi,Maiken Elvestad Gabrielsen,Mark J. Daly,Mark J. Daly,Benjamin M. Neale,Benjamin M. Neale,Kristian Hveem,Gonçalo R. Abecasis,Cristen J. Willer,Seunggeun Lee +14 more
TL;DR: It is shown that SAIGE-GENE can efficiently analyze large sample data (N > 400,000) with type I error rates well controlled and is applicable to exome-wide and genome-wide region-based analysis for hundreds of thousands of samples.