RT Journal Article
SR Electronic
T1 MuCor: Mutation Aggregation and Correlation
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 022780
DO 10.1101/022780
A1 Karl W. Kroll
A1 Ann-Katherin Eisfeld
A1 Gerard Lozanski
A1 Clara D. Bloomfield
A1 John C. Byrd
A1 James S. Blachly
YR 2015
UL http://biorxiv.org/content/early/2015/07/19/022780.abstract
AB Motivation There are many tools for variant calling and effect prediction, but little to tie together large sample groups. Aggregating, sorting, and summarizing variants and effects across a cohort is often done with ad hoc scripts that must be re-written for every new project. In response, we have written MuCor, a tool to gather variants from a variety of input formats (including multiple files per sample), perform database lookups and frequency calculations, and write many report types. In addition to use in large studies with numerous samples, MuCor can also be employed to directly compare variant calls from the same sample across two or more platforms, parameters, or pipelines. A companion utility, DepthGauge, measures coverage at regions of interest to increase confidence in calls.Availability Source code is freely available at https://github.com/blachlylabContact james.blachly{at}osumc.eduSupplementary data Supplementary data, including detailed documentation, are available online.