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Detection of internal exon deletion with exon Del

BACKGROUND: Exome sequencing allows researchers to study the human genome in unprecedented detail. Among the many types of variants detectable through exome sequencing, one of the most over looked types of mutation is internal deletion of exons. Internal exon deletions are the absence of consecutive...

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Détails bibliographiques
Publié dans:BMC Bioinformatics
Auteurs principaux: Guo, Yan, Zhao, Shilin, Lehmann, Brian D, Sheng, Quanhu, Shaver, Timothy M, Stricker, Thomas P, Pietenpol, Jennifer A, Shyr, Yu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4288651/
https://ncbi.nlm.nih.gov/pubmed/25322818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-332
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