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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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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.
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Methods for Association Analysis and Meta‐Analysis of Rare Variants in Families

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.
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Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Yao Hu, +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.
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eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues.

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, +162 more
- 06 May 2020 - 
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.