MuCor: mutation aggregation and correlation

被引:17
作者
Kroll, Karl W. [1 ]
Eisfeld, Ann-Katherin [2 ]
Lozanski, Gerard [3 ]
Bloomfield, Clara D. [1 ,4 ]
Byrd, John C. [1 ,4 ]
Blachly, James S. [1 ,4 ]
机构
[1] Ohio State Univ, Dept Internal Med, Div Hematol, Columbus, OH 43210 USA
[2] Ohio State Univ, Dept Human Canc Genet & Mol Virol, Columbus, OH 43210 USA
[3] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA
[4] Ohio State Univ, James Comprehens Canc Ctr, Columbus, OH 43210 USA
基金
美国国家卫生研究院;
关键词
DNA-SEQUENCING DATA; FRAMEWORK;
D O I
10.1093/bioinformatics/btw028
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
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 types of reports. 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.
引用
收藏
页码:1557 / 1558
页数:2
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