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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2015

Feng Yanming, Chen David, Wang Guo-Li, Zhang Victor Wei, Wong Lee-Jun C

Abstract excerpt

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 individual exons. We compared the results with those obtained from high-density exon-targeted array comparative genomic...

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Identifiers

PMID: 25032985
DOI: 10.1038/gim.2014.80
PMCID: PMC4338802

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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