Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in precise diagnosis and fertility guidance of heredity hearing loss. Here we reported an effective method employing target enrichment and BGISEQ-500...

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Sparad:
Bibliografiska uppgifter
I publikationen:Medicine (Baltimore)
Huvudupphovsmän: Sun, Yan, Yuan, Jing, Wu, Limin, Li, Min, Cui, Xiaoli, Yan, Chengbin, Du, Lique, Mao, Liangwei, Man, Jianfen, Li, Wei, Kristiansen, Karsten, Wu, Xuan, Pan, Weijun, Yang, Yun
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer Health 2019
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6709004/
https://ncbi.nlm.nih.gov/pubmed/30896630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000014860
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