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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
Nat Genet. 2019.
PMID: 31676867
No abstract available.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project.
Turnbull C, et al.
BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687.
BMJ. 2018.
PMID: 29691228
No abstract available.
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