The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
Medical genomics
Molecular medicine
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2020
2020
Historique:
received:
17
09
2019
accepted:
24
08
2020
entrez:
21
10
2020
pubmed:
22
10
2020
medline:
22
10
2020
Statut:
epublish
Résumé
The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed). In this study, we aim to characterise two datasets obtained from 358 individuals from the BIPMed using two different platforms: whole-exome sequencing (WES) and a single nucleotide polymorphism (SNP) array. We estimated allele frequencies and variant pathogenicity values from the two datasets and compared our results using the BIPMed dataset with other public databases. Here, we show that the BIPMed WES dataset contains variants not included in dbSNP, including 6480 variants that have alternative allele frequencies (AAFs) >1%. Furthermore, after merging BIPMed WES and SNP array data, we identified 809,589 variants (47.5%) not present within the 1000 Genomes dataset. Our results demonstrate that, through the incorporation of Brazilian individuals into public genomic databases, BIPMed not only was able to provide valuable knowledge needed for the implementation of precision medicine but may also enhance our understanding of human genome variability and the relationship between genetic variation and disease predisposition.
Identifiants
pubmed: 33083011
doi: 10.1038/s41525-020-00149-6
pii: 10.1038/s41525-020-00149-6
pmc: PMC7532430
doi:
Types de publication
Journal Article
Langues
eng
Pagination
42Subventions
Organisme : Fundação de Amparo à Pesquisa do Estado de São Paulo (São Paulo Research Foundation)
ID : 2013/07559-3
Organisme : Fundação de Amparo à Pesquisa do Estado de São Paulo (São Paulo Research Foundation)
ID : 2013/19524-0
Organisme : Governo Brasil (Brazilian Government)
ID : 403299/2016-0
Organisme : Governo Brasil (Brazilian Government)
ID : 309494/2014-1
Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing interests.
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