bioRxiv preprint: Validation of an ultra-fast CNV calling tool for Next Generation Sequencing data using MLPA-verified copy number alterations

DNA Copy Number Variations (CNVs) are an important source for genetic diversity and pathogenic variants.

Next Generation Sequencing (NGS) methods have become increasingly more popular for CNV detection, but its data analysis is a growing bottleneck. We validated Genalice CNV using the ICR96 exon CNV validation series data generated by Professor Nazneen Rahman’s team at The Institute of Cancer Research, London as part of the TGMI.

Genalice CNV detects 61 out of 62 exon CNVs and its false positive rate is less than 1%. It analyzes 96 samples from a targeted NGS assay in less than 45 minutes, including read alignment and CNV detection, using a single node. The manuscript is currently published on the bioRxiv website.

Read more on the bioRxiv website

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