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Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

Deepti Gurdasani, +68 more
- 31 Oct 2019 - 
- Vol. 179, Iss: 4, pp 984
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TLDR
The largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-genome sequences from rural Uganda, finds evidence of geographically correlated fine-scale population substructure.
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This article is published in Cell.The article was published on 2019-10-31 and is currently open access. It has received 128 citations till now. The article focuses on the topics: Population & Imputation (genetics).

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The genetics of obesity: from discovery to biology

TL;DR: Loos and Yeo as mentioned in this paper summarized the current understanding of the genetic underpinnings of monogenic and polygenic obesity and highlighted the commonalities revealed by recent studies and discuss the implications for treatment and prediction of obesity risk.
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The trans-ancestral genomic architecture of glycemic traits

Ji Chen, +478 more
- 31 May 2021 - 
TL;DR: This paper aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available.
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

Ji Chen, +478 more
- 25 Jul 2020 - 
TL;DR: Genomic feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways, increasing understanding of diabetes pathophysiology by use of trans-ancestry studies for improved power and resolution.

Heritability in the genome-wide association era

Peter Kraft, +1 more
TL;DR: Modern methods for estimating heritability are examined in the context of classical heritability methods, the missing heritability problem, and their implications for understanding the genetic architecture of complex phenotypes.
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A roadmap to increase diversity in genomic studies

TL;DR: In this article , the authors highlight the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all, and describe factors that have contributed to the imbalance in representation of different populations and propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances.
References
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Journal ArticleDOI

Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
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A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
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Principal components analysis corrects for stratification in genome-wide association studies

TL;DR: This work describes a method that enables explicit detection and correction of population stratification on a genome-wide scale and uses principal components analysis to explicitly model ancestry differences between cases and controls.
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A global reference for human genetic variation.

Adam Auton, +517 more
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