https://github.com/mikessh/mageri
MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers
https://github.com/mikessh/mageri
amplicon bioinformatics cancer ctdna exon mapping mutation umi variant
Last synced: about 1 month ago
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MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers
- Host: GitHub
- URL: https://github.com/mikessh/mageri
- Owner: mikessh
- License: other
- Created: 2014-11-19T11:40:59.000Z (over 11 years ago)
- Default Branch: master
- Last Pushed: 2017-05-08T22:17:54.000Z (about 9 years ago)
- Last Synced: 2026-01-15T08:17:35.602Z (5 months ago)
- Topics: amplicon, bioinformatics, cancer, ctdna, exon, mapping, mutation, umi, variant
- Language: Java
- Homepage: http://mageri.readthedocs.org/en/latest/
- Size: 99.7 MB
- Stars: 21
- Watchers: 5
- Forks: 6
- Open Issues: 9
-
Metadata Files:
- Readme: README.md
- License: LICENSE
Awesome Lists containing this project
README
MAGERI
======
[](https://travis-ci.org/mikessh/mageri)
[Molecular tagging approach](http://www.pnas.org/content/108/23/9530) has revolutionized the field of high depth genome re-sequencing
by allowing detection of ultra-rare mutations. This pipeline aims at filling the gap in software for analysis of UMI-tagged data.
MAGERI implements consensus assembly, alignment and variant calling and allows to process
datasets into ready SAM and VCF files in a single command. Its main purpose is to analyze targeted region genome re-sequencing data for tumor heterogeneity and circulating tumor DNA studies, however it can be also applied to other tasks that require accurate rare variant detection.
See [mageri-paper repository](https://github.com/mikessh/mageri-paper) for examples and supplementary data.
Software binaries can be found in the [releases section](https://github.com/mikessh/mageri/releases/latest), the documentation is available [here](http://mageri.readthedocs.io/en/latest/).
Please cite the software as [Shugay et al. Plos Comp Biol 2017](http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1005480).