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Article

Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting.

Pathology - 1 Jan 2014

Hinchcliffe Marcus, Le Huong, Fimmel Anthony, Molloy Laura, Freeman Lucinda, Sullivan David, Trent Ronald J

Abstract excerpt

Our aim was to assess the sensitivity and specificity of a next generation DNA sequencing (NGS) platform using a capture based DNA library preparation method. Data and experience gained from this diagnostic validation can be used to progress the applications of NGS in the wider molecular diagnostic setting. A technical cross-validation comparing the current molecular diagnostic gold standard methods of Sanger DNA...

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PMID: 24300713
DOI: 10.1097/PAT.0000000000000026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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