Article

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

2018-06-06

Abstract excerpt

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. Genalice CNV is a novel tool for detection of CNVs. It takes care of turnaround time, scalability and cost issues associated with NGS computational analysis. Here, we...

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Literature Corpus work: 4fc45c9b-6b72-5888-b98b-9316d41942c0
DOI: 10.1101/340505

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