Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

PURPOSE: We aimed to demonstrate the detection of exonic deletions using target capture and deep sequencing data. METHODS: Sequence data from target gene capture followed by massively parallel sequencing were analyzed for the detection of exonic deletions using the normalized mean coverage of indivi...

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Veröffentlicht in:Genet Med
Hauptverfasser: Feng, Yanming, Chen, David, Wang, Guo-Li, Zhang, Victor Wei, Wong, Lee-Jun C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
Schlagworte:
Original Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4338802/
https://ncbi.nlm.nih.gov/pubmed/25032985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.80
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