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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Dades bibliogràfiques
Publicat a:Genet Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2020
Matèries:
Brief Communication
Accés en línia: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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