Who’s who? Detecting and resolving sample anomalies in human DNA sequencing studies with peddy

The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from the cohort are mislabelled, swapped, contaminated, or include unintended individuals. Unfortunately, the potential for such errors is significant since DNA samples are often manipulated by several protocols, labs or scientists in the process of sequencing. We have developed 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 each individuals genotypes. Peddy predicts a samples ancestry using a machine learning model trained on individuals of diverse ance