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Year Number of Results
2021 4
2022 7
2023 4
2024 0

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15 results

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Page 1
Mendelian Randomization.
Birney E. Birney E. Cold Spring Harb Perspect Med. 2022 May 17;12(4):a041302. doi: 10.1101/cshperspect.a041302. Cold Spring Harb Perspect Med. 2022. PMID: 34872952 Free PMC article. Review.
The International Human Genome Project.
Birney E. Birney E. Hum Mol Genet. 2021 Oct 1;30(R2):R161-R163. doi: 10.1093/hmg/ddab198. Hum Mol Genet. 2021. PMID: 34264324 Free PMC article. Review.
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.
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.
Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, Cox E, Davidson C, Ermolaeva O, Farrell CM, Fatima R, Gil L, Goldfarb T, Gonzalez JM, Haddad D, Hardy M, Hunt T, Jackson J, Joardar VS, Kay M, Kodali VK, McGarvey KM, McMahon A, Mudge JM, Murphy DN, Murphy MR, Rajput B, Rangwala SH, Riddick LD, Thibaud-Nissen F, Threadgold G, Vatsan AR, Wallin C, Webb D, Flicek P, Birney E, Pruitt KD, Frankish A, Cunningham F, Murphy TD. Morales J, et al. Nature. 2022 Apr;604(7905):310-315. doi: 10.1038/s41586-022-04558-8. Epub 2022 Apr 6. Nature. 2022. PMID: 35388217 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. 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.
Phenopacket-tools: Building and validating GA4GH Phenopackets.
Danis D, Jacobsen JOB, Wagner AH, Groza T, Beckwith MA, Rekerle L, Carmody LC, Reese J, Hegde H, Ladewig MS, Seitz B, Munoz-Torres M, Harris NL, Rambla J, Baudis M, Mungall CJ, Haendel MA, Robinson PN. Danis D, et al. PLoS One. 2023 May 17;18(5):e0285433. doi: 10.1371/journal.pone.0285433. eCollection 2023. PLoS One. 2023. PMID: 37196000 Free PMC article.
CRAM 3.1: advances in the CRAM file format.
Bonfield JK. Bonfield JK. Bioinformatics. 2022 Mar 4;38(6):1497-1503. doi: 10.1093/bioinformatics/btac010. Bioinformatics. 2022. PMID: 34999766 Free PMC article.
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. Cell Genom. 2021 Nov 10;1(2):100032. doi: 10.1016/j.xgen.2021.100032. Cell Genom. 2021. PMID: 35128509 Free PMC article.
15 results