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

• Published in: Genome Biology Vol. 19; no. 1; p. 21
• Main Authors: Morales, Joannella, Welter, Danielle, Bowler, Emily H, Cerezo, Maria, Harris, Laura W, McMahon, Aoife C, Hall, Peggy, Junkins, Heather A, Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A, MacArthur, Jacqueline A L
• Format: Journal Article
• Language: English
• Published: England BioMed Central 15.02.2018; BMC
• Subjects: African Americans; Ancestry; Bioinformatics; Data processing; Diversity; Genetic Variation; Genome-wide association studies; Genome-Wide Association Study - standards; Genomes; Genomics; Genomics - standards; GWAS Catalog; Hispanic Americans; Humans; Mitochondrial DNA; Multiculturalism & pluralism; Native peoples; Ontology; Open Letter; Population; Population genetics; Racial Groups; Studies; Ancestry; Genome-wide association studies; GWAS Catalog; Population genetics; Genomics; Diversity
• ISSN: 1474-760X; 1474-7596; 1474-760X
• DOI: 10.1186/s13059-018-1396-2

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.