Detection of internal exon deletion with exon Del

Abstract

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 exons in a gene. Such deletions have potentially significant… (More)
DOI: 10.1186/1471-2105-15-332

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