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Page 1
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: page ajh. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
Dolman L, Page A, Babb L, Freimuth RR, Arachchi H, Bizon C, Brush M, Fiume M, Haendel M, Hansen DP, Milosavljevic A, Patel RY, Pawliczek P, Yates AD, Rehm HL. Dolman L, et al. Hum Mutat. 2018 Nov;39(11):1686-1689. doi: 10.1002/humu.23625. Hum Mutat. 2018. PMID: 30311379 Free PMC article.
Federated discovery and sharing of genomic data using Beacons.
Fiume M, Cupak M, Keenan S, Rambla J, de la Torre S, Dyke SOM, Brookes AJ, Carey K, Lloyd D, Goodhand P, Haeussler M, Baudis M, Stockinger H, Dolman L, Lappalainen I, Törnroos J, Linden M, Spalding JD, Ur-Rehman S, Page A, Flicek P, Sherry S, Haussler D, Varma S, Saunders G, Scollen S. Fiume M, et al. Nat Biotechnol. 2019 Mar;37(3):220-224. doi: 10.1038/s41587-019-0046-x. Nat Biotechnol. 2019. PMID: 30833764 Free PMC article. No abstract available.
Publisher Correction: Federated discovery and sharing of genomic data using Beacons.
Fiume M, Cupak M, Keenan S, Rambla J, de la Torre S, Dyke SOM, Brookes AJ, Carey K, Lloyd D, Goodhand P, Haeussler M, Baudis M, Stockinger H, Dolman L, Lappalainen I, Törnroos J, Linden M, Spalding JD, Ur-Rehman S, Page A, Flicek P, Sherry S, Haussler D, Varma S, Saunders G, Scollen S. Fiume M, et al. Nat Biotechnol. 2019 Apr;37(4):480. doi: 10.1038/s41587-019-0094-2. Nat Biotechnol. 2019. PMID: 30894680 Free PMC article.
Leveraging European infrastructures to access 1 million human genomes by 2022.
Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Saunders G, et al. Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Nat Rev Genet. 2019. PMID: 31455890 Free PMC article. Review.
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.
Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Saunders G, et al. Nat Rev Genet. 2019 Nov;20(11):702. doi: 10.1038/s41576-019-0178-3. Nat Rev Genet. 2019. PMID: 31520075
International federation of genomic medicine databases using GA4GH standards.
Thorogood A, Rehm HL, Goodhand P, Page AJH, Joly Y, Baudis M, Rambla J, Navarro A, Nyronen TH, Linden M, Dove ES, Fiume M, Brudno M, Cline MS, Bimey E. Thorogood A, et al. Among authors: page ajh. Cell Genom. 2021 Nov 10;1(2):100032. doi: 10.1016/j.xgen.2021.100032. Cell Genom. 2021. PMID: 35128509 Free PMC article.
Equity, diversity, and inclusion at the Global Alliance for Genomics and Health.
Skantharajah N, Baichoo S, Boughtwood TF, Casas-Silva E, Chandrasekharan S, Dave SM, Fakhro KA, Falcon de Vargas AB, Gayle SS, Gupta VK, Hendricks-Sturrup R, Hobb AE, Li S, Llamas B, Lopez-Correa C, Machirori M, Melendez-Zajgla J, Millner MA, Page AJH, Paglione LD, Raven-Adams MC, Smith L, Thomas EM, Kumuthini J, Corpas M. Skantharajah N, et al. Among authors: page ajh. Cell Genom. 2023 Aug 24;3(10):100386. doi: 10.1016/j.xgen.2023.100386. eCollection 2023 Oct 11. Cell Genom. 2023. PMID: 37868041 Free PMC article. Review.