SERVIC4E
Effective Detection of Rare Variants in Pooled DNA Samples using Cross-Pool Tailcurve Analysis
Sequencing targeted DNA regions in large samples is necessary to discover the full spectrum of rare variants. We report an effective Illumina sequencing strategy utilizing pooled samples with novel quality (SRFIM) and filtering (SERVIC4E) algorithms. We sequenced 24 exons in two cohorts of 480 samples each, identifying 47 coding variants including 30 present once per cohort. Sanger validation revealed an excellent combination of sensitivity and specificity for rare variant detection compared to publicly available algorithms.