| Texto completo | |
| Autor(es): |
Rocha, Cristiane S.
;
Secolin, Rodrigo
;
Rodrigues, Maira R.
;
Carvalho, Benilton S.
;
Lopes-Cendes, Iscia
Número total de Autores: 5
|
| Tipo de documento: | Artigo Científico |
| Fonte: | NPJ GENOMIC MEDICINE; v. 5, n. 1, p. 7-pg., 2020-10-02. |
| Resumo | |
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. (AU) | |
| Processo FAPESP: | 16/26173-7 - Aplicação de técnicas avançadas de biologia computacional para a análise de dados genômicos |
| Beneficiário: | MAIRA RIBEIRO RODRIGUES |
| Modalidade de apoio: | Bolsas no Brasil - Pós-Doutorado |
| Processo FAPESP: | 13/07559-3 - Instituto Brasileiro de Neurociência e Neurotecnologia - BRAINN |
| Beneficiário: | Fernando Cendes |
| Modalidade de apoio: | Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs |
| Processo FAPESP: | 13/19524-0 - Estudos de associação genética em epilepsia de lobo temporal mesial e acidente vascular cerebral |
| Beneficiário: | Rodrigo Secolin |
| Modalidade de apoio: | Bolsas no Brasil - Pós-Doutorado |