With single nucleotide variations (SNVs) being identified in ever increasing numbers with next generation sequencing data, we are often interested in a breakdown of the effect of the mutations, and if a particular change is somatic or germline. We are also interested in high quality true positive mutations, which are increasingly important considering their use in clinical decisions. PASsiT is a suite of tools developed to help us address these needs in our high-throughput sequencing and analysis environment.
See poster presented at RECOMB 2011 for more details:
Released Apr 01, 2011