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Article

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Human mutation - 1 Apr 2014

Watson Christopher M, Crinnion Laura A, Morgan Joanne E, Harrison Sally M, Diggle Christine P, Adlard Julian, Lindsay Helen A, Camm Nick, Charlton Ruth, Sheridan Eamonn, Bonthron David T, Taylor Graham R, Carr Ian M

Abstract excerpt

Targeted hybridization enrichment prior to next-generation sequencing is a widespread method for characterizing sequence variation in a research setting, and is being adopted by diagnostic laboratories. However, the number of variants identified can overwhelm clinical laboratories with strict tim...

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PMID: 24307375
DOI: 10.1002/humu.22490
PMCID: PMC4285299

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DNAH8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24307375-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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