Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.
AuthorBennetts, B; Caramins, M; Hsu, A; Lau, C; Mead, S; Meldrum, C; Smith, TD; Suthers, G; Taylor, GR; Cotton, RGH; ...
Source TitleApplied and Translational Genomics
University of Melbourne Author/sSmith, Timothy; COTTON, RICHARD; SUTHERS, GRAEME; Taylor, Graham; Hsu, Arthur
Academic Services and Registrar
Document TypeJournal Article
CitationsBennetts, B., Caramins, M., Hsu, A., Lau, C., Mead, S., Meldrum, C., Smith, T. D., Suthers, G., Taylor, G. R., Cotton, R. G. H. & Tyrrell, V. (2014). Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.. Appl Transl Genom, 3 (3), pp.54-57. https://doi.org/10.1016/j.atg.2014.07.002.
Access StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888016
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 of this project will be promoted to other health systems and accreditation bodies by the Human Variome Project to support the development of similar frameworks in other jurisdictions.
- Click on "Export Reference in RIS Format" and choose "open with... Endnote".
- Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References