Article

CHARR efficiently estimates contamination from DNA sequencing data

2023-06-28

Abstract excerpt

DNA sample contamination is a major issue in clinical and research applications of whole genome and exome sequencing. Even modest levels of contamination can substantially affect the overall quality of variant calls and lead to widespread genotyping errors. Currently, popular tools for estimating the contamination level use short-read data (BAM/CRAM files), which are expensive to store and manipulate and often not...

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Literature Corpus work: b041d1d3-08a0-57e9-9471-7054db8ddaaa
DOI: 10.1101/2023.06.28.545801

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