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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.

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Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries.

Alan M. Kwong, +51 more
- 17 May 2021 - 
TL;DR: The Robust Unified Test for Hardy-Weinberg Equilibrium (RUTH) as discussed by the authors was proposed to test for HWE while accounting for population structure and genotype uncertainty, and to evaluate the impact of population heterogeneity and uncertainty on the standard HWE tests and alternative methods using simulated and real sequence data sets.
Posted ContentDOI

Presence and Transmission of Mitochondrial Heteroplasmic Mutations in Human Populations of European and African Ancestry

Chunyu Liu, +22 more
- 13 Oct 2020 - 
TL;DR: The concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in different types of maternal pairs of European and African Americans with whole genome sequences is investigated to provide further evidence that mtDNA heteroplasies may be inherited or somatic.
Posted ContentDOI

Is disrupted sleep a risk factor for Alzheimer’s disease? Evidence from a two-sample Mendelian randomization analysis

Emma L Anderson, +29 more
- 19 Apr 2019 - 
TL;DR: These findings provide tentative evidence that daytime napping may reduce AD risk, however, findings should be replicated using independent samples.

Supplementary Material 4

Joshua C. Randall, +263 more
Posted ContentDOI

Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma

Angel C.Y. Mak, +36 more
- 21 Apr 2020 - 
TL;DR: This study identified a novel protective genetic association with FEV1, possibly mediated through KITLG, in African American children with asthma, using whole genome sequencing data from the National Heart, Lung, and Blood Institute TOPMed project.