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Prepare release 1.5.8-genotek
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y-popov committed May 31, 2021
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36 changes: 1 addition & 35 deletions README.md
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![Imputationserver Logo](logo.png)

[![Publication](https://img.shields.io/badge/Published-Nature%20Genetics-26af64.svg?colorB=26af64&style=popout)](https://www.nature.com/articles/ng.3656)
[![Build Status](https://travis-ci.org/genepi/imputationserver.svg?branch=master)](https://travis-ci.org/genepi/imputationserver)
[![codecov](https://codecov.io/gh/genepi/imputationserver/branch/master/graph/badge.svg)](https://codecov.io/gh/genepi/imputationserver)
<a href="https://twitter.com/intent/follow?screen_name=umimpute"> <img src="https://img.shields.io/twitter/follow/umimpute.svg?style=social" alt="follow on Twitter"></a>

This repository includes the complete source code for the [Michigan Imputation Server](https://imputationserver.sph.umich.edu) workflow based on Minimac4.
The workflow itself is executed with the [Cloudgene workflow system](https://github.com/genepi/cloudgene) for Hadoop MapReduce.

Michigan Imputation Server consists of several parallelized pipeline steps:

- Quality Control
- QC Report
- Phasing and Imputation
- Compression and Encryption

## Documentation
The documentation is available at http://imputationserver.readthedocs.io.

## Citation
Please cite this paper if you use Michigan Imputation Server:

> Das S, Forer L, Schönherr S, Sidore C, Locke AE, Kwong A, Vrieze S, Chew EY, Levy S, McGue M, Schlessinger D, Stambolian D, Loh PR, Iacono WG, Swaroop A, Scott LJ, Cucca F, Kronenberg F, Boehnke M, Abecasis GR, Fuchsberger C. [Next-generation genotype imputation service and methods](https://www.ncbi.nlm.nih.gov/pubmed/27571263). Nature Genetics 48, 1284–1287 (2016).
## Contact

Feel free to contact [us](https://imputationserver.sph.umich.edu/index.html#!pages/contact) in case of any problems.

## Contributors

- Lukas Forer
- Sebastian Schönherr
- Sayantan Das
- Christian Fuchsberger

## Contributing
Project contributions are more than welcome! See our [CONTRIBUTING.md](CONTRIBUTING.md) file for details.
This repository is a fork of https://github.com/genepi/imputationserver
2 changes: 1 addition & 1 deletion files/minimac4.yaml
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id: imputationserver
name: Genotype Imputation (Minimac4)
description: This is the new Michigan Imputation Server Pipeline using <a href="https://github.com/statgen/Minimac4">Minimac4</a>. Documentation can be found <a href="http://imputationserver.readthedocs.io/en/latest/">here</a>.<br><br>If your input data is <b>GRCh37/hg19</b> please ensure chromosomes are encoded without prefix (e.g. <b>20</b>).<br>If your input data is <b>GRCh38hg38</b> please ensure chromosomes are encoded with prefix 'chr' (e.g. <b>chr20</b>).
version: 1.5.8
version: 1.5.8-genotek
website: https://imputationserver.readthedocs.io
category:

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2 changes: 1 addition & 1 deletion pom.xml
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<groupId>genepi</groupId>
<artifactId>imputationserver</artifactId>
<version>1.5.8</version>
<version>1.5.8-genotek</version>
<packaging>jar</packaging>

<name>University of Michigan Imputation Server</name>
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public class ImputationPipeline {

public static final String PIPELINE_VERSION = "michigan-imputationserver-1.5.8";
public static final String PIPELINE_VERSION = "michigan-imputationserver-1.5.8-genotek";

public static final String IMPUTATION_VERSION = "minimac4-1.0.2";

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Expand Up @@ -71,13 +71,15 @@ public static Properties defaults() {
defaults.setProperty("chunksize", "20000000");
defaults.setProperty("phasing.window", "5000000");
defaults.setProperty("minimac.window", "500000");
defaults.setProperty("minimac.vcores", "1");
defaults.setProperty("eagle.vcores", "1");
defaults.setProperty("minimac.sendmail", "no");
defaults.setProperty("server.url", "https://imputationserver.sph.umich.edu");
defaults.setProperty("minimac.tmp", "/tmp");
defaults.setProperty("minimac.command",
"--refHaps ${ref} --haps ${vcf} --start ${start} --end ${end} --window ${window} --prefix ${prefix} --chr ${chr} --cpus 1 --noPhoneHome --format GT,DS,GP --allTypedSites --meta --minRatio 0.00001 ${chr =='MT' ? '--myChromosome ' + chr : ''} ${unphased ? '--unphasedOutput' : ''} ${mapMinimac != null ? '--referenceEstimates --map ' + mapMinimac : ''}");
defaults.setProperty("eagle.command",
"--vcfRef ${ref} --vcfTarget ${vcf} --geneticMapFile ${map} --outPrefix ${prefix} --bpStart ${start} --bpEnd ${end} --allowRefAltSwap --vcfOutFormat z --keepMissingPloidyX");
"--numThreads ${eagle.vcores} --vcfRef ${ref} --vcfTarget ${vcf} --geneticMapFile ${map} --outPrefix ${prefix} --bpStart ${start} --bpEnd ${end} --allowRefAltSwap --vcfOutFormat z --keepMissingPloidyX");
defaults.setProperty("beagle.command",
"-jar ${beagle} ref=${ref} gt=${vcf} out=${prefix} nthreads=1 chrom=${chr}:${start}-${end} map=${map} impute=false");
defaults.setProperty("ref.fasta", "v37");
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