A Standardized Framework for Representation of Ancestry Data in Genomics Studies, with Application to the NHGRI-EBI GWAS Catalog

Overview

Journal Genome Biol

Specialties Biology
Genetics

Date 2018 Feb 17

PMID 29448949

Citations 120

Authors

Joannella Morales

Danielle Welter

Emily H Bowler

Maria Cerezo

Laura W Harris

Aoife C McMahon

Peggy Hall

Heather A Junkins

Annalisa Milano

Emma Hastings

Cinzia Malangone

Annalisa Buniello

Tony Burdett

Paul Flicek

Helen Parkinson

Fiona Cunningham

Lucia A Hindorff

Jacqueline A L MacArthur

Affiliations

Soon will be listed here.

Abstract

The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.

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