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Article

CHARR efficiently estimates contamination from DNA sequencing data.

American journal of human genetics - 7 Dec 2023

Lu Wenhan, Gauthier Laura D, Poterba Timothy, Giacopuzzi Edoardo, Goodrich Julia K, Stevens Christine R, King Daniel, Daly Mark J, Neale Benjamin M, Karczewski Konrad J

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...

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Identifiers

PMID: 38000370
DOI: 10.1016/j.ajhg.2023.10.011
PMCID: PMC10716339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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