The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

BACKGROUND: The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical ge...

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Publicado en:Orphanet J Rare Dis
Autores principales: Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E., Molster, Caron, Blackwell, Jenefer M., Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4902909/
https://ncbi.nlm.nih.gov/pubmed/27287197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0462-7
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