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Page 1
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors; Burn J, Chanock S, Rätsch G, Spurdle AB. Cline MS, et al. PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586411 Free PMC article.
Public variant databases: liability?
Thorogood A, Cook-Deegan R, Knoppers BM. Thorogood A, et al. Genet Med. 2017 Jul;19(7):838-841. doi: 10.1038/gim.2016.189. Epub 2016 Dec 15. Genet Med. 2017. PMID: 27977006 Free PMC article.
Creating a data resource: what will it take to build a medical information commons?
Deverka PA, Majumder MA, Villanueva AG, Anderson M, Bakker AC, Bardill J, Boerwinkle E, Bubela T, Evans BJ, Garrison NA, Gibbs RA, Gentleman R, Glazer D, Goldstein MM, Greely H, Harris C, Knoppers BM, Koenig BA, Kohane IS, La Rosa S, Mattison J, O'Donnell CJ, Rai AK, Rehm HL, Rodriguez LL, Shelton R, Simoncelli T, Terry SF, Watson MS, Wilbanks J, Cook-Deegan R, McGuire AL. Deverka PA, et al. Genome Med. 2017 Sep 22;9(1):84. doi: 10.1186/s13073-017-0476-3. Genome Med. 2017. PMID: 28938910 Free PMC article.
Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons.
McGuire AL, Majumder MA, Villanueva AG, Bardill J, Bollinger JM, Boerwinkle E, Bubela T, Deverka PA, Evans BJ, Garrison NA, Glazer D, Goldstein MM, Greely HT, Kahn SD, Knoppers BM, Koenig BA, Lambright JM, Mattison JE, O'Donnell C, Rai AK, Rodriguez LL, Simoncelli T, Terry SF, Thorogood AM, Watson MS, Wilbanks JT, Cook-Deegan R. McGuire AL, et al. J Law Med Ethics. 2019 Mar;47(1):12-20. doi: 10.1177/1073110519840480. J Law Med Ethics. 2019. PMID: 30994067 Free PMC article.
BRCA1/2 Variant Data-Sharing Practices.
Bollinger JM, Sanka A, Dolman L, Liao RG, Cook-Deegan R. Bollinger JM, et al. J Law Med Ethics. 2019 Mar;47(1):88-96. doi: 10.1177/1073110519840487. J Law Med Ethics. 2019. PMID: 30994073 Free PMC article.
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 R, Li S… See abstract for full author list ➔ Rehm HL, et al. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
The Human Pangenome Project: a global resource to map genomic diversity.
Wang T, Antonacci-Fulton L, Howe K, Lawson HA, Lucas JK, Phillippy AM, Popejoy AB, Asri M, Carson C, Chaisson MJP, Chang X, Cook-Deegan R, Felsenfeld AL, Fulton RS, Garrison EP, Garrison NA, Graves-Lindsay TA, Ji H, Kenny EE, Koenig BA, Li D, Marschall T, McMichael JF, Novak AM, Purushotham D, Schneider VA, Schultz BI, Smith MW, Sofia HJ, Weissman T, Flicek P, Li H, Miga KH, Paten B, Jarvis ED, Hall IM, Eichler EE, Haussler D; Human Pangenome Reference Consortium. Wang T, et al. Nature. 2022 Apr;604(7906):437-446. doi: 10.1038/s41586-022-04601-8. Epub 2022 Apr 20. Nature. 2022. PMID: 35444317 Free PMC article. Review.
Gene patenting--the Supreme Court finally speaks.
Kesselheim AS, Cook-Deegan RM, Winickoff DE, Mello MM. Kesselheim AS, et al. N Engl J Med. 2013 Aug 29;369(9):869-75. doi: 10.1056/NEJMhle1308199. Epub 2013 Jul 10. N Engl J Med. 2013. PMID: 23841703 Free PMC article. No abstract available.
164 results