Improving copy number variant detection from sequencing data with a combination of programs and a predictive model

We present an efficient bioinformatics pipeline for CNV detection from gene panel MPS data in neuromuscular disorders. CNVs were generated in silico into samples sequenced with a previously published MPS gene panel. The in silico CNVs from these samples were analyzed with four programs having complementary CNV detection ranges, CoNIFER, XHMM, ExomeDepth, and CODEX.

Source: Journal of Molecular Diagnostics - November 12, 2019 Category: Pathology Authors: Salla V älipakka, Marco Savarese, Lydia Sagath, Meharji Arumilli, Teresa Giugliano, Bjarne Udd, Peter Hackman Source Type: research