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Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Human mutation - 1 Mar 2009

Goossens Dirk, Moens Lotte N, Nelis Eva, Lenaerts An-Sofie, Glassee Wim, Kalbe Andreas, Frey Bruno, Kopal Guido, De Jonghe Peter, De Rijk Peter, Del-Favero Jurgen

Abstract excerpt

We evaluated multiplex PCR amplification as a front-end for high-throughput sequencing, to widen the applicability of massive parallel sequencers for the detailed analysis of complex genomes. Using multiplex PCR reactions, we sequenced the complete coding regions of seven genes implicated in peripheral neuropathies in 40 individuals on a GS-FLX genome sequencer (Roche). The resulting dataset showed highly...

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PMID: 19058222
DOI: 10.1002/humu.20873

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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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