Peddy

[PMID:28190455] [American Journal of Human Genetics]

Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy

“to identify and facilitate the remediation of such errors via interactive visualizations and reports comparing the stated sex, relatedness, and ancestry to what is inferred from the individual genotypes derived from whole-genome (WGS) or whole-exome (WES) sequencing. Peddy predicts a sample’s ancestry using a machine learning model trained on individuals of diverse ancestries from the 1000 Genomes Project reference panel.” Work from Aaron Quinlan.

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