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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.

Papers
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A general test of association for quantitative traits in nuclear families.

Gonçalo R. Abecasis, +2 more
- 01 Jan 2000 - 
TL;DR: A general approach that can accommodate nuclear families of any size, with or without parental information, is constructed, and it is shown that, when siblings are available, the total number of genotypes required in order to achieve comparable power is smaller if parents are not genotyped.
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Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, +26 more
- 24 Apr 2014 - 
TL;DR: The key challenges of assessing sequence variants in human disease are discussed, integrating both gene-level and variant-level support for causality and guidelines for summarizing confidence in variant pathogenicity are proposed.
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Anubha Mahajan, +131 more
- 08 Oct 2018 - 
TL;DR: Combining 32 genome-wide association studies with high-density imputation provides a comprehensive view of the genetic contribution to type 2 diabetes in individuals of European ancestry with respect to locus discovery, causal-variant resolution, and mechanistic insight.
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Mapping copy number variation by population-scale genome sequencing

Ryan E. Mills, +374 more
- 03 Feb 2011 - 
TL;DR: A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.
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A genome-wide association study of global gene expression

Anna L. Dixon, +13 more
- 01 Oct 2007 - 
TL;DR: A global map of the effects of polymorphism on gene expression in 400 children from families recruited through a proband with asthma is created and a downloadable database is created to facilitate use of the findings in the mapping of complex disease loci.