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Hadoop-CNV-RF: a clinically validated and scalable copy number variation detection tool for next-generation sequencing data

2020-01-29

Abstract excerpt

<title>Abstract</title> <p>Objective : Detection of small copy number variations (CNVs) in clinically relevant genes is routinely being used to aid diagnosis. We recently developed a tool, CNV-RF , capable of detecting small clinically relevant CNVs. CNV-RF was designed for small gene panels and did not scale well to large gene panels. On large gene panels, CNV-RF routinely failed due to memory limitations. When...

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Literature Corpus work: ba8437a1-9e25-56f2-b958-d51df49348c9
DOI: 10.21203/rs.2.22176/v1

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