Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry.

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Bibliographic Details
Published inGenome Biology Vol. 17; no. 1; p. 157
Main Authors Petrovski, Slavé, Goldstein, David B
Format Journal Article
LanguageEnglish
Published England BioMed Central 14.07.2016
Subjects
Consortia
Ethnicity
European Continental Ancestry Group - genetics
Genes
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - genetics
Genetic disorders
Genetic diversity
Genetic Variation
Genomes
Genomics
Humans
Medicine
Open Letter
Precision Medicine
Precision medicine
Genetic variation
Sequence interpretation
Genetic ancestry
Rare variants
Disease-associated genes
Healthcare inequality
Geographic ancestry
Next generation sequencing
Clinical diagnostics
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Summary:An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry.
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-016-1016-y