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Page 1
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.
Deflaux N, Selvaraj MS, Condon HR, Mayo K, Haidermota S, Basford MA, Lunt C, Philippakis AA, Roden DM, Denny JC, Musick A, Collins R, Allen N, Effingham M, Glazer D, Natarajan P, Bick AG. Deflaux N, et al. Among authors: glazer d. Nat Commun. 2023 Sep 5;14(1):5419. doi: 10.1038/s41467-023-41185-x. Nat Commun. 2023. PMID: 37669985 Free PMC article.
Genome-wide characteristics of de novo mutations in autism.
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW. Yuen RK, et al. Among authors: d abate l, glazer d. NPJ Genom Med. 2016 Aug 3;1:160271-1602710. doi: 10.1038/npjgenmed.2016.27. NPJ Genom Med. 2016. PMID: 27525107 Free PMC article.
Atoms, bits, and cells.
Glazer D. Glazer D. Appl Transl Genom. 2015 Aug 4;6:11-4. doi: 10.1016/j.atg.2015.07.004. eCollection 2015 Sep. Appl Transl Genom. 2015. PMID: 27054072 Free PMC article. No abstract available.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. C Yuen RK, et al. Among authors: d abate l, glazer d. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6. Nat Neurosci. 2017. PMID: 28263302 Free PMC article.
The "All of Us" Research Program.
All of Us Research Program Investigators; Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. All of Us Research Program Investigators, et al. N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937. N Engl J Med. 2019. PMID: 31412182 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 … See abstract for full author list ➔ Rehm HL, et al. Among authors: glazer d. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
The All of Us Research Program: Data quality, utility, and diversity.
Ramirez AH, Sulieman L, Schlueter DJ, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman KN, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark CR, Cohn E, Ohno-Machado L, Schully SD, Ahmedani BK, Argos M, Cronin RM, O'Donnell C, Fouad M, Goldstein DB, Greenland P, Hebbring SJ, Karlson EW, Khatri P, Korf B, Smoller JW, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney SA, Gebo K, Denny JC, Carroll RJ, Glazer D, Harris PA, Hripcsak G, Philippakis A, Roden DM; All of Us Research Program. Ramirez AH, et al. Among authors: glazer d. Patterns (N Y). 2022 Aug 12;3(8):100570. doi: 10.1016/j.patter.2022.100570. eCollection 2022 Aug 12. Patterns (N Y). 2022. PMID: 36033590 Free PMC article.
The All of Us Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research.
Mayo KR, Basford MA, Carroll RJ, Dillon M, Fullen H, Leung J, Master H, Rura S, Sulieman L, Kennedy N, Banks E, Bernick D, Gauchan A, Lichtenstein L, Mapes BM, Marginean K, Nyemba SL, Ramirez A, Rotundo C, Wolfe K, Xia W, Azuine RE, Cronin RM, Denny JC, Kho A, Lunt C, Malin B, Natarajan K, Wilkins CH, Xu H, Hripcsak G, Roden DM, Philippakis AA, Glazer D, Harris PA. Mayo KR, et al. Among authors: glazer d. Annu Rev Biomed Data Sci. 2023 Aug 10;6:443-464. doi: 10.1146/annurev-biodatasci-122120-104825. Annu Rev Biomed Data Sci. 2023. PMID: 37561600 Free PMC article. Review.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
105 results