estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

with exome sequencing becoming a tool for mutation detection in routine diagnostics there is an increasing needfor platform-independent methods of quality control. we present a genotype-weighted metric that allowscomparison of all the variant calls of an exome to a high-quality reference dataset of an ethnically matchedpopulation. the exome-wide genotyping accuracy is estimated from the distance to this reference set, and doesnot require any further knowledge about data generation or the bioinformatics involved. the distances of ourmetric are visualized by non-metric multidimensional scaling and serve as an intuitive, standardizable score for thequality assessment of exome data.