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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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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Rios, Jonathan J, Delgado, Mauricio R
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
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Online-ссылка: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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