Human genetic variation database, a reference database of genetic variations in the Japanese population.
J Hum Genet
; 61(6): 547-53, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-26911352
ABSTRACT
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic genetic variation from 1208 Japanese individuals through a collaborative effort, and aggregated the data into a prevailing catalog. In total, we identified 156 622 previously unreported variants. The allele frequencies for the majority (88.8%) were lower than 0.5% in allele frequency and predicted to be functionally deleterious. In addition, we have constructed a Japanese-specific major allele reference genome by which the number of unique mapping of the short reads in our data has increased 0.045% on average. Our results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants. All the collected data were centralized to a newly developed database to serve as useful resources for exploring pathogenic variations. Public access to the database is available at http//www.genome.med.kyoto-u.ac.jp/SnpDB/.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Bases de Dados Genéticas
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Genética Populacional
Limite:
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article