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Article

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Journal of medical genetics - 1 Feb 2011

Carr Ian M, Camm Nick, Taylor Graham R, Charlton Ruth, Ellard Sian, Sheridan Eamonn G, Markham Alexander F, Bonthron David T

Abstract excerpt

BACKGROUND: While massively parallel DNA sequencing methods continue to evolve rapidly, the benchmark technique for detection and verification of rare (particularly disease-causing) sequence variants remains four-colour dye-terminator sequencing by capillary electrophoresis. The high throughput a...

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PMID: 21037276
DOI: 10.1136/jmg.2010.082081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21037276-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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