A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Genome Biology

Heather A. Junkins¹  Peggy Hall¹  Lucia A. Hindorff¹  Aoife C. McMahon²  Cinzia Malangone²  Helen Parkinson²  Danielle Welter²  Emily H. Bowler²  Laura W. Harris²  Paul Flicek²  Fiona Cunningham²  Joannella Morales²  Annalisa Milano²  Emma Hastings²  Jacqueline A. L. MacArthur²  Annalisa Buniello²  Maria Cerezo²  Tony Burdett² 

[1] Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health;European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus;

关键词: Genomics;    Genome-wide association studies;    GWAS Catalog;    Ancestry;    Diversity;    Population genetics;   

DOI  :  10.1186/s13059-018-1396-2

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown