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Article

Deep sequencing to reveal new variants in pooled DNA samples.

Human mutation - 1 Dec 2009

Out Astrid A, van Minderhout Ivonne J H M, Goeman Jelle J, Ariyurek Yavuz, Ossowski Stephan, Schneeberger Korbinian, Weigel Detlef, van Galen Michiel, Taschner Peter E M, Tops Carli M J, Breuning Martijn H, van Ommen Gert-Jan B, den Dunnen Johan T, Devilee Peter, Hes Frederik J

Abstract excerpt

We evaluated massive parallel sequencing and long-range PCR (LRP) for rare variant detection and allele frequency estimation in pooled DNA samples. Exons 2 to 16 of the MUTYH gene were analyzed in breast cancer patients with Illumina's (Solexa) technology. From a pool of 287 genomic DNA samples we generated a single LRP product, while the same LRP was performed on 88 individual samples and the resulting products...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19842214
DOI: 10.1002/humu.21122

Genes

MUTYH

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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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