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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

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MAGERI - Assemble, align and call variants for targeted genome re-sequencing with unique molecular identifiers

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MAGERI
======

[![Build Status](https://travis-ci.org/mikessh/mageri.svg?branch=master)](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).