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Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

BMC genomics - 22 Aug 2012

Elsharawy Abdou, Forster Michael, Schracke Nadine, Keller Andreas, Thomsen Ingo, Petersen Britt-Sabina, Stade Björn, Stähler Peer, Schreiber Stefan, Rosenstiel Philip, Franke Andre

Abstract excerpt

BACKGROUND: Compared to classical genotyping, targeted next-generation sequencing (tNGS) can be custom-designed to interrogate entire genomic regions of interest, in order to detect novel as well as known variants. To bring down the per-sample cost, one approach is to pool barcoded NGS libraries before sample enrichment. Still, we lack a complete understanding of how this multiplexed tNGS approach and the varying...

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PMID: 22913592
DOI: 10.1186/1471-2164-13-417
PMCID: PMC3563481

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BRCA1

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