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https://ahro.austin.org.au/austinjspui/handle/1/16275| 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 | URI: | https://ahro.austin.org.au/austinjspui/handle/1/16275 | DOI: | 10.1186/s13059-016-1016-y | Journal: | Genome Biology | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/27418169 | 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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| art%3A10.1186%2Fs13059-016-1016-y.pdf | 564.79 kB | Adobe PDF |  View/Open |
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