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GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen … See abstract for full author list ➔ Rehm HL, et al. Among authors: gaff cl. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
Genomics and personalised whole-of-life healthcare.
Bauer DC, Gaff C, Dinger ME, Caramins M, Buske FA, Fenech M, Hansen D, Cobiac L. Bauer DC, et al. Trends Mol Med. 2014 Sep;20(9):479-86. doi: 10.1016/j.molmed.2014.04.001. Epub 2014 May 4. Trends Mol Med. 2014. PMID: 24801560 Review.
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance; Oshlack A, White SM, James PA. Stark Z, et al. Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832562 Free PMC article.
Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).
Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ. Woolley JP, et al. NPJ Genom Med. 2018 Jul 23;3:17. doi: 10.1038/s41525-018-0057-4. eCollection 2018. NPJ Genom Med. 2018. PMID: 30062047 Free PMC article. Review.
Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.
Stark Z, Nisselle A, McClaren B, Lynch F, Best S, Long JC, Martyn M, Patel C, Schlapbach LJ, Barnett C, Theda C, Pinner J, Dinger ME, Lunke S, Gaff CL. Stark Z, et al. Among authors: gaff cl. Eur J Hum Genet. 2019 Oct;27(10):1493-1501. doi: 10.1038/s41431-019-0429-y. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31148592 Free PMC article.
169 results