Article
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2014
Concolino Paola, Costella Alessandra, Minucci Angelo, Scaglione Giovanni Luca, Santonocito Concetta, Salutari Vanda, Scambia Giovanni, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
BACKGROUND: Recent advances in next generation sequencing (NGS) technology have enabled comprehensive and accurate screening of the entire genomic region of BRCA1/2 genes and, to date, many studies report the effectiveness of these technologies. Here we show that Gene Scan (GS) labeling Quality Control (QC), performed before massive parallel pyrosequencing, coupled with Multiple Amplicon Quantification software...
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