Variational inference for rare variant detection in deep, heterogeneous next-generation sequencing data.
Fan ZhangPatrick J FlahertyPublished in: BMC bioinformatics (2017)
We developed a variational EM algorithm for a hierarchical Bayesian model to identify rare variants in heterogeneous next-generation sequencing data. Our algorithm is able to identify variants in a broad range of read depths and non-reference allele frequencies with high sensitivity and specificity.