MuCor: Mutation Aggregation and Correlation

BioRxiv : the Preprint Server for Biology
Karl W KrollJames S Blachly

Abstract

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/blachlylab Contact: james.blachly@osumc.edu Supplementary data: Supplementary data, including detailed documentation, are available online.

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