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. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nature Communications 2018, 9: 4038. PMID: 30279509, PMCID: PMC6168605, DOI: 10.1038/s41467-018-06159-4.Peer-Reviewed Original Research