A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data.

Abstract excerpt

Any single nucleotide variant detection study could benefit from a fast and cheap method of measuring the quality of variant call list. It is advantageous to be able to see how the call list quality is affected by different variant filtering thresholds and other adjustments to the study parameters. Here we look into a possibility of estimating the proportion of true positives in a single nucleotide variant call...

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