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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Nature Publishing Group US 2020
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Brief Communication
Online Access: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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