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Using whole-exome sequencing to identify variants inherited from mosaic parents
Whole-exome sequencing (WES) has allowed the discovery of genes and variants causing rare human disease. This is often achieved by comparing nonsynonymous variants between unrelated patients, and particularly for sporadic or recessive disease, often identifies a single or few candidate genes for fur...
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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4666568/ https://ncbi.nlm.nih.gov/pubmed/24986828 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.125 |
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