Article

A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data

2021-04-30

Abstract excerpt

<h4>Background</h4> Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. The clinically relevant CNVs are hard to detect because CNVs are common structural variations that define large parts of the normal human genome. CNV calling from short-read sequencing data has the potential to leverage available cohort studies and allow full genomic profiling in the clinic wit...

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Literature Corpus work: 17aea55b-fabc-531e-b02b-d23ff0fea3c6
DOI: 10.1101/2021.04.30.442110

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