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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. Chen R, et al. Among authors: bobe jr. Nat Biotechnol. 2016 May;34(5):531-8. doi: 10.1038/nbt.3514. Epub 2016 Apr 11. Nat Biotechnol. 2016. PMID: 27065010
A public resource facilitating clinical use of genomes.
Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow MJ, Cano C, Chou MF, Chung WK, Douglas SM, Estep PW, Gore A, Hulick P, Labarga A, Lee JH, Lunshof JE, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters BA, Raman AM, Rienhoff HY, Robasky K, Wheeler MT, Vandewege W, Vorhaus DB, Yang JL, Yang L, Aach J, Ashley EA, Drmanac R, Kim SJ, Li JB, Peshkin L, Seidman CE, Seo JS, Zhang K, Rehm HL, Church GM. Ball MP, et al. Proc Natl Acad Sci U S A. 2012 Jul 24;109(30):11920-7. doi: 10.1073/pnas.1201904109. Epub 2012 Jul 13. Proc Natl Acad Sci U S A. 2012. PMID: 22797899 Free PMC article.
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E, Sebra R, Bashir A, Truty RM, Chang CC, Gulbahce N, Zhao K, Ghosh S, Hyland F, Fu Y, Chaisson M, Xiao C, Trow J, Sherry ST, Zaranek AW, Ball M, Bobe J, Estep P, Church GM, Marks P, Kyriazopoulou-Panagiotopoulou S, Zheng GX, Schnall-Levin M, Ordonez HS, Mudivarti PA, Giorda K, Sheng Y, Rypdal KB, Salit M. Zook JM, et al. Sci Data. 2016 Jun 7;3:160025. doi: 10.1038/sdata.2016.25. Sci Data. 2016. PMID: 27271295 Free PMC article.
'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods.
Middleton A, Niemiec E, Prainsack B, Bobe J, Farley L, Steed C, Smith J, Bevan P, Bonhomme N, Kleiderman E, Thorogood A, Schickhardt C, Garattini C, Vears D, Littler K, Banner N, Scott E, Kovalevskaya NV, Levin E, Morley KI, Howard HC. Middleton A, et al. Per Med. 2018 Jul 1;15(4):311-318. doi: 10.2217/pme-2018-0032. Epub 2018 Jun 1. Per Med. 2018. PMID: 29856292 Free article.
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
Cai B, Li B, Kiga N, Thusberg J, Bergquist T, Chen YC, Niknafs N, Carter H, Tokheim C, Beleva-Guthrie V, Douville C, Bhattacharya R, Yeo HTG, Fan J, Sengupta S, Kim D, Cline M, Turner T, Diekhans M, Zaucha J, Pal LR, Cao C, Yu CH, Yin Y, Carraro M, Giollo M, Ferrari C, Leonardi E, Tosatto SCE, Bobe J, Ball M, Hoskins RA, Repo S, Church G, Brenner SE, Moult J, Gough J, Stanke M, Karchin R, Mooney SD. Cai B, et al. Hum Mutat. 2017 Sep;38(9):1266-1276. doi: 10.1002/humu.23265. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28544481 Free PMC article.
APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
Thorogood A, Bobe J, Prainsack B, Middleton A, Scott E, Nelson S, Corpas M, Bonhomme N, Rodriguez LL, Murtagh M, Kleiderman E; Participant Values Task Team of the Global Alliance for Genomics and Health. Thorogood A, et al. Hum Genomics. 2018 Feb 17;12(1):7. doi: 10.1186/s40246-018-0139-5. Hum Genomics. 2018. PMID: 29454384 Free PMC article. Review.
Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data.
Middleton A, Milne R, Howard H, Niemiec E, Robarts L, Critchley C, Nicol D, Prainsack B, Atutornu J, Vears DF, Smith J, Steed C, Bevan P, Scott ER, Bobe J, Goodhand P, Kleiderman E, Thorogood A, Morley KI; Participant Values Work Stream of the Global Alliance for Genomics and Health. Middleton A, et al. Eur J Hum Genet. 2020 Apr;28(4):424-434. doi: 10.1038/s41431-019-0550-y. Epub 2019 Nov 29. Eur J Hum Genet. 2020. PMID: 31784701 Free PMC article.
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