Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.

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    Author
    Bennetts, B; Caramins, M; Hsu, A; Lau, C; Mead, S; Meldrum, C; Smith, TD; Suthers, G; Taylor, GR; Cotton, RGH; ...
    Date
    2014-09-01
    Source Title
    Applied and Translational Genomics
    Publisher
    Elsevier BV
    University of Melbourne Author/s
    Smith, Timothy; COTTON, RICHARD; SUTHERS, GRAEME; Taylor, Graham; Hsu, Arthur
    Affiliation
    Pathology
    Clinical Pathology
    Academic Services and Registrar
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Bennetts, 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 Status
    Open Access
    URI
    http://hdl.handle.net/11343/262984
    DOI
    10.1016/j.atg.2014.07.002
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888016
    Abstract
    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.

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