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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology.
Brody JA, Morrison AC, Bis JC, O'Connell JR, Brown MR, Huffman JE, Ames DC, Carroll A, Conomos MP, Gabriel S, Gibbs RA, Gogarten SM, Gupta N, Jaquish CE, Johnson AD, Lewis JP, Liu X, Manning AK, Papanicolaou GJ, Pitsillides AN, Rice KM, Salerno W, Sitlani CM, Smith NL; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; TOPMed Hematology and Hemostasis Working Group; CHARGE Analysis and Bioinformatics Working Group; Heckbert SR, Laurie CC, Mitchell BD, Vasan RS, Rich SS, Rotter JI, Wilson JG, Boerwinkle E, Psaty BM, Cupples LA. Brody JA, et al. Among authors: ames dc. Nat Genet. 2017 Oct 27;49(11):1560-1563. doi: 10.1038/ng.3968. Nat Genet. 2017. PMID: 29074945 Free PMC article.
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
Regier AA, Farjoun Y, Larson DE, Krasheninina O, Kang HM, Howrigan DP, Chen BJ, Kher M, Banks E, Ames DC, English AC, Li H, Xing J, Zhang Y, Matise T, Abecasis GR, Salerno W, Zody MC, Neale BM, Hall IM. Regier AA, et al. Among authors: ames dc. Nat Commun. 2018 Oct 2;9(1):4038. doi: 10.1038/s41467-018-06159-4. Nat Commun. 2018. PMID: 30279509 Free PMC article.