Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/16275
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Petrovski, Slavé | - |
dc.contributor.author | Goldstein, David B | - |
dc.date | 2016-07-14 | - |
dc.date.accessioned | 2016-09-15T06:53:11Z | - |
dc.date.available | 2016-09-15T06:53:11Z | - |
dc.date.issued | 2016-07-14 | - |
dc.identifier.citation | Genome Biology 2016; 17(1): 157 | en_US |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/16275 | - |
dc.description | Open letter | en_US |
dc.description.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. | en_US |
dc.subject | Clinical diagnostics | en_US |
dc.subject | Disease-associated genes | en_US |
dc.subject | Genetic ancestry | en_US |
dc.subject | Genetic variation | en_US |
dc.subject | Geographic ancestry | en_US |
dc.subject | Healthcare inequality | en_US |
dc.subject | Next generation sequencing | en_US |
dc.subject | Precision medicine | en_US |
dc.subject | Rare variants | en_US |
dc.subject | Sequence interpretation | en_US |
dc.title | Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine | en_US |
dc.type | Journal Article | en_US |
dc.identifier.journaltitle | Genome Biology | en_US |
dc.identifier.affiliation | Austin Health, Heidelberg, Victoria, Australia | en_US |
dc.identifier.affiliation | Institute for Genomic Medicine, Columbia University, New York, NY, USA | en_US |
dc.identifier.affiliation | Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia | en_US |
dc.identifier.affiliation | Department of Medicine, the University of Melbourne, Royal Melbourne Hospital, Parkville, Victoria, Australia | en_US |
dc.identifier.pubmeduri | https://pubmed.ncbi.nlm.nih.gov/27418169 | en_US |
dc.identifier.doi | 10.1186/s13059-016-1016-y | en_US |
dc.type.content | Text | en_US |
dc.type.austin | Journal Article | en_US |
item.openairetype | Journal Article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.fulltext | With Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
Appears in Collections: | Journal articles |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
art%3A10.1186%2Fs13059-016-1016-y.pdf | 564.79 kB | Adobe PDF | View/Open |
Page view(s)
20
checked on Nov 27, 2024
Download(s)
20
checked on Nov 27, 2024
Google ScholarTM
Check
Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.