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

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 Genetic...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888016/
https://www.ncbi.nlm.nih.gov/pubmed/27294016
http://dx.doi.org/10.1016/j.atg.2014.07.002