Title
EPIGEN-Brazil Initiative resources: A Latin American imputation panel and the Scientific Workflow
Date Issued
01 July 2018
Access level
open access
Resource Type
journal article
Author(s)
Magalhães W.C.S.
Araujo N.M.
Leal T.P.
Araujo G.S.
Viriato P.J.S.
Kehdy F.S.
Costa G.N.
Barreto M.L.
Horta B.L.
Lima-Costa M.F.
Pereira A.C.
Rodrigues M.R.
Alvim I.O.
Gouveia M.H.
Machado M.
Moreira R.G.
Rodrigues-Soares F.
Sant Anna H.P.
Scliar M.O.
Soares-Souza G.B.
Zamudio R.
Zolini C.
Universidade Federal de Minas Gerais
Universidade Federal de Minas Gerais
Publisher(s)
Cold Spring Harbor Laboratory Press
Abstract
EPIGEN-Brazil is one of the largest Latin American initiatives at the interface of human genomics, public health, and computational biology. Here, we present two resources to address two challenges to the global dissemination of precision medicine and the development of the bioinformatics know-how to support it. To address the underrepresentation of non-European individuals in human genome diversity studies, we present the EPIGEN-5M+1KGP imputation panel-the fusion of the public 1000 Genomes Project (1KGP) Phase 3 imputation panel with haplotypes derived from the EPIGEN-5M data set (a product of the genotyping of 4.3 million SNPs in 265 admixed individuals from the EPIGEN-Brazil Initiative). When we imputed a target SNPs data set (6487 admixed individuals genotyped for 2.2 million SNPs from the EPIGEN-Brazil project) with the EPIGEN-5M+1KGP panel, we gained 140,452 more SNPs in total than when using the 1KGP Phase 3 panel alone and 788,873 additional high confidence SNPs (info score ≥ 0.8). Thus, the major effect of the inclusion of the EPIGEN-5M data set in this new imputation panel is not only to gain more SNPs but also to improve the quality of imputation. To address the lack of transparency and reproducibility of bioinformatics protocols, we present a conceptual Scientific Workflow in the form of a website that models the scientific process (by including publications, flowcharts, masterscripts, documents, and bioinformatics protocols), making it accessible and interactive. Its applicability is shown in the context of the development of our EPIGEN-5M+1KGP imputation panel. The Scientific Workflow also serves as a repository of bioinformatics resources.
Start page
1090
End page
1095
Volume
28
Issue
7
Language
English
OCDE Knowledge area
Genética humana
Tecnologías que implican la manipulación de células, tejidos, órganos o todo el organismo
Scopus EID
2-s2.0-85049239878
PubMed ID
Source
Genome Research
ISSN of the container
10889051
Sponsor(s)
The EPIGEN-Brazil Initiative is funded by the Brazilian Ministry of Health (Department of Science and Technology from the Secretaria de Ciência, Tecnologia e Insumos Estratégicos) through Financiadora de Estudos e Projetos. The EPIGEN-Brazil investigators received funding from the Brazilian Ministry of Education (CAPES Agency), Brazilian National Research Council (CNPq), the Minas Gerais State Agency for Support of Research (FAPEMIG), and the Minas Gerais Network of Population Genomics and Precision Medicine (FAPEMIG RED00314-16). M.L.S. and V.B. have PhD fellowships from the international Brazilian government programs TWAS-CNPq and CAPES-PEC-PG, respectively. M.R.R. has a São Paulo Research Foundation (FAPESP) fellowship. We used the SAGARANA cluster from the Instituto de Ciências Biológicas from the Federal University of Minas Gerais, and we thank Prof. Miguel Ortega for bioinformatics support.
Sources of information:
Directorio de Producción Científica
Scopus