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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Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group US 2020
Soggetti:
Brief Communication
Accesso online: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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