Article

T-CNV: a robust tool for detecting and visualizing copy number variants in targeted sequencing data.

2020-05-22

Abstract excerpt

<title>Abstract</title> <p>Background Copy number variants (CNVs) are widespread among human genes, causing Mendelian or sporadic traits, or associating with complex diseases. Several tools have been developed for CNV assessment based on next generation sequencing (NGS) data using Read-depth (RD) strategy. However, maintaining high level of sensitivity and specificity is always challenging. Here, we present a nov...

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Literature Corpus work: d0009717-b017-5be5-83b2-6cd3046bf136
DOI: 10.21203/rs.3.rs-27672/v1

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