EPIGEN-Brazil Initiative resources: a Latin American imputation panel and the Scientific Workflow

• DOI: 10.1101/gr.225458.117
• Publication Date: 2018-06-14T15:15:33Z
• Authors: Wagner C.S. Magal...; Nathalia M. Araujo; Thiago P. Leal; Gilderlanio S. Ar...; Paula J.S. Viriato; Fernanda S. Kehdy; Gustavo N. Costa; Mauricio L. Barreto; Bernardo L. Horta; Maria Fernanda Li...; Alexandre C. Pereira; Eduardo Tarazona-...; Maíra R. Rodrigues
• Keywords: Imputation (statistics); 1000 Genomes Project; Ensembl

EPIGEN-Brazil is one of the largest Latin American initiatives at interface human genomics, public health, and computational biology. Here, we present two resources to address challenges global dissemination precision medicine development bioinformatics know-how support it. To underrepresentation non-European individuals in genome diversity studies, EPIGEN-5M+1KGP imputation panel-the fusion 1000 Genomes Project (1KGP) Phase 3 panel with haplotypes derived from EPIGEN-5M data set (a product genotyping 4.3 million SNPs 265 admixed Initiative). When imputed a target (6487 genotyped for 2.2 project) panel, gained 140,452 more total than when using 1KGP alone 788,873 additional high confidence (info score ≥ 0.8). Thus, major effect inclusion this new not only gain but also improve quality imputation. lack transparency reproducibility protocols, conceptual Scientific Workflow form website that models scientific process (by including publications, flowcharts, masterscripts, documents, protocols), making it accessible interactive. Its applicability shown context our panel. The serves as repository resources.