Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.
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ABSTRACT:
SUBMITTER: Bennetts B
PROVIDER: S-EPMC4888016 | biostudies-other | 2014 Sep
REPOSITORIES: biostudies-other
Publications
Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.
Bennetts B B Caramins M M Hsu A A Lau C C Mead S S Meldrum C C Smith T D TD Suthers G G Taylor G R GR Cotton R G H RG Tyrrell V V
Applied & translational genomics 20140710 3
Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics. To address this issue, The Royal College of Pathologists of Australasia (RCPA) in collaboration with the Human Genetics Society of Australasia (HGSA), and the Human Variome Project (HVP) is developing standards for DNA sequence variation databases intended for use in the Australian clinical environment. The outputs o ...[more]
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