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

2014; Elsevier BV; Volume: 3; Issue: 3 Linguagem: Inglês

10.1016/j.atg.2014.07.002

2212-0661

Bruce Bennetts, Melody Caramins, Arthur Hsu, Chiyan Lau, Simon Mead, Cliff Meldrum, Tim D. Smith, Graeme Suthers, Graham R. Taylor, Richard G.H. Cotton, Vanessa Tyrrell,

Genomic variations and chromosomal abnormalities

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.