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Title: Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
Austin Authors: Petrovski, Slavé;Goldstein, David B
Affiliation: Austin Health, Heidelberg, Victoria, Australia
Institute for Genomic Medicine, Columbia University, New York, NY, USA
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Medicine, the University of Melbourne, Royal Melbourne Hospital, Parkville, Victoria, Australia
Issue Date: 14-Jul-2016
Date: 2016-07-14
Publication information: Genome Biology 2016; 17(1): 157
Abstract: 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.
Description: Open letter
DOI: 10.1186/s13059-016-1016-y
Journal: Genome Biology
PubMed URL:
Type: Journal Article
Subjects: Clinical diagnostics
Disease-associated genes
Genetic ancestry
Genetic variation
Geographic ancestry
Healthcare inequality
Next generation sequencing
Precision medicine
Rare variants
Sequence interpretation
Appears in Collections:Journal articles

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