Whole genome sequencing predicts novel human disease models in rhesus macaques.
Genomics
; 109(3-4): 214-220, 2017 07.
Article
em En
| MEDLINE
| ID: mdl-28438488
Rhesus macaques are an important pre-clinical model of human disease. To advance our understanding of genomic variation that may influence disease, we surveyed genome-wide variation in 21 rhesus macaques. We employed best-practice variant calling, validated with Mendelian inheritance. Next, we used alignment data from our cohort to detect genomic regions likely to produce inaccurate genotypes, potentially due to either gene duplication or structural variation between individuals. We generated a final dataset of >16 million high confidence variants, including 13 million in Chinese-origin rhesus macaques, an increasingly important disease model. We detected an average of 131 mutations predicted to severely alter protein coding per animal, and identified 45 such variants that coincide with known pathogenic human variants. These data suggest that expanded screening of existing breeding colonies will identify novel models of human disease, and that increased genomic characterization can help inform research studies in macaques.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Modelos Animais de Doenças
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Doenças Genéticas Inatas
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Macaca mulatta
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Mutação
Tipo de estudo:
Guideline
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Prognostic_studies
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Risk_factors_studies
Limite:
Animals
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Estados Unidos