CHARR efficiently estimates contamination from DNA sequencing data

Lu et  al. develop CHARR, a method for estimating DNA sample contamination from variant call data, which leverages the infiltration of reference reads within homozygous alternate variant calls. CHARR accurately recapitulates results from existing tools with substantially reduced cost and increased effici ency, which facilitates downstream analyses of ultra-large genomic data.

Source: The American Journal of Human Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Wenhan Lu, Laura D. Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K. Goodrich, Christine R. Stevens, Daniel King, Mark J. Daly, Benjamin M. Neale, Konrad J. Karczewski Tags: Article Source Type: research