ART-DeCo (Allelic Ratio based Tool for Detection of Contamination) has been designed to detect contamination in constitutional NGS analysis. The tool uses the allelic ratio (AR) of Single Nucleotide Polymorphisms (SNPs) sequenced within regions of interest. When a sample is contaminated by DNA with a different genotype, unexpected ARs are obtained. Those are in turn used for detection of contamination with a screening test, followed by
identification and quantification of the contaminant.
ART-DeCo can be implemented in any NGS workflow, from gene panel to genome-wide analyses.
Any polymorphism is helpfull. Rare SNPs and SNPs in linkage disequilibrium should be taken into account to consolidate predicted contaminations.
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