Mobile element insertion detection in 89,874 clinical exomes

PURPOSE: Exome sequencing (ES) is increasingly used for the diagnosis of rare genetic disease. However, some pathogenic sequence variants within the exome go undetected due to the technical difficulty of identifying them. Mobile element insertions (MEIs) are a known cause of genetic disease in human...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Torene, Rebecca I., Galens, Kevin, Liu, Shuxi, Arvai, Kevin, Borroto, Carlos, Scuffins, Julie, Zhang, Zhancheng, Friedman, Bethany, Sroka, Hana, Heeley, Jennifer, Beaver, Erin, Clarke, Lorne, Neil, Sarah, Walia, Jagdeep, Hull, Danna, Juusola, Jane, Retterer, Kyle
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200591/
https://ncbi.nlm.nih.gov/pubmed/31965078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0749-x
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