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MuCor: mutation aggregation and correlation
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866525/ https://www.ncbi.nlm.nih.gov/pubmed/26803155 http://dx.doi.org/10.1093/bioinformatics/btw028 |
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author | Kroll, Karl W. Eisfeld, Ann-Katherin Lozanski, Gerard Bloomfield, Clara D. Byrd, John C. Blachly, James S. |
author_facet | Kroll, Karl W. Eisfeld, Ann-Katherin Lozanski, Gerard Bloomfield, Clara D. Byrd, John C. Blachly, James S. |
author_sort | Kroll, Karl W. |
collection | PubMed |
description | 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. Availability and implementation: Source code is freely available at https://github.com/blachlylab/mucor and a Docker image is available at https://hub.docker.com/r/blachlylab/mucor/ Contact: james.blachly@osumc.edu Supplementary data: Supplementary data are available at Bioinformatics online. |
format | Online Article Text |
id | pubmed-4866525 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-48665252016-05-16 MuCor: mutation aggregation and correlation Kroll, Karl W. Eisfeld, Ann-Katherin Lozanski, Gerard Bloomfield, Clara D. Byrd, John C. Blachly, James S. Bioinformatics Applications Notes 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. Availability and implementation: Source code is freely available at https://github.com/blachlylab/mucor and a Docker image is available at https://hub.docker.com/r/blachlylab/mucor/ Contact: james.blachly@osumc.edu Supplementary data: Supplementary data are available at Bioinformatics online. Oxford University Press 2016-05-15 2016-02-23 /pmc/articles/PMC4866525/ /pubmed/26803155 http://dx.doi.org/10.1093/bioinformatics/btw028 Text en © The Author 2016. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Applications Notes Kroll, Karl W. Eisfeld, Ann-Katherin Lozanski, Gerard Bloomfield, Clara D. Byrd, John C. Blachly, James S. MuCor: mutation aggregation and correlation |
title | MuCor: mutation aggregation and correlation |
title_full | MuCor: mutation aggregation and correlation |
title_fullStr | MuCor: mutation aggregation and correlation |
title_full_unstemmed | MuCor: mutation aggregation and correlation |
title_short | MuCor: mutation aggregation and correlation |
title_sort | mucor: mutation aggregation and correlation |
topic | Applications Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866525/ https://www.ncbi.nlm.nih.gov/pubmed/26803155 http://dx.doi.org/10.1093/bioinformatics/btw028 |
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