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This repository was archived by the owner on Jan 27, 2020. It is now read-only.
Copy file name to clipboardExpand all lines: CHANGELOG.md
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@@ -12,7 +12,7 @@ and this project adheres to [Semantic Versioning](http://semver.org/spec/v2.0.0.
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-[#671](https://github.com/SciLifeLab/Sarek/pull/671) - New `publishDirMode` param and docs
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-[#673](https://github.com/SciLifeLab/Sarek/pull/673), [#675](https://github.com/SciLifeLab/Sarek/pull/675), [#676](https://github.com/SciLifeLab/Sarek/pull/676) - Profiles for BinAC and CFC clusters in Tübingen
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-[#679](https://github.com/SciLifeLab/Sarek/pull/679) - Add container for `CreateIntervalBeds`
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-[#692](https://github.com/SciLifeLab/Sarek/pull/692)- Add AWS iGenomes possibilities (currently under `iGRCh37` and `iGRCh38`)
Copy file name to clipboardExpand all lines: docs/REFERENCES.md
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# Genomes and reference files
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Sarek currently uses GRCh38 by default. The settings are in `genomes.config`, they can be tailored to your needs.
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Sarek currently uses GRCh38 by default.
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The settings are in `genomes.config`, they can be tailored to your needs.
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The [`buildReferences.nf`](#buildreferencesnf) script is used to build the indexes for the reference test.
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## GRCh37
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Use `--genome GRCh37` to map against GRCh37. Before doing so and if you are not on UPPMAX, you need to adjust the settings in `genomes.config` to your needs.
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Use `--genome GRCh37` to map against GRCh37.
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Before doing so and if you are not on UPPMAX, you need to adjust the settings in `genomes.config` to your needs.
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### GATK bundle
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### Other files for GRCh37
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From our repo, get the [`intervals` list file](https://raw.githubusercontent.com/SciLifeLab/Sarek/master/repeats/wgs_calling_regions.grch37.list). More information about this file in the [intervals documentation](INTERVALS.md)
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From our repo, get the [`intervals` list file](https://raw.githubusercontent.com/SciLifeLab/Sarek/master/repeats/wgs_calling_regions.grch37.list).
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More information about this file in the [intervals documentation](INTERVALS.md)
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Description of how to generate the Loci file used in the ASCAT process is described [here](https://github.com/SciLifeLab/Sarek/blob/master/docs/ASCAT.md).
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You can create your own cosmic reference for any human reference as specified below in the Cosmic section.
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## GRCh38
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Use `--genome GRCh38` to map against GRCh38. Before doing so and if you are not on UPPMAX, you need to adjust the settings in `genomes.config` to your needs.
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Use `--genome GRCh38` to map against GRCh38.
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Before doing so and if you are not on UPPMAX, you need to adjust the settings in `genomes.config` to your needs.
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To get the needed files, download the GATK bundle for GRCh38 from [ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/hg38/](ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/hg38/). You can also download the required files from the Google Cloud mirror link [here](https://console.cloud.google.com/storage/browser/genomics-public-data/resources/broad/hg38/v0).
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To get the needed files, download the GATK bundle for GRCh38 from [ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/hg38/](ftp://gsapubftp-anonymous@ftp.broadinstitute.org/bundle/hg38/).
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You can also download the required files from the Google Cloud mirror link [here](https://console.cloud.google.com/storage/browser/genomics-public-data/resources/broad/hg38/v0).
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The MD5SUM of `Homo_sapiens_assembly38.fasta` included in that file is 7ff134953dcca8c8997453bbb80b6b5e.
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If you download the data from the FTP servers `beta/` directory, which seems to be an older version of the bundle, only `Homo_sapiens_assembly38.known_indels.vcf` is needed. Also, you can omit `dbsnp_138_` and `dbsnp_144` files as we use `dbsnp_146`. The old ones also use the wrong chromosome naming convention. The Google Cloud mirror has all data in the `v0` directory, but requires you to remove the `resources_broad_hg38_v0_` prefixes from all files.
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If you download the data from the FTP servers `beta/` directory, which seems to be an older version of the bundle, only `Homo_sapiens_assembly38.known_indels.vcf` is needed.
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Also, you can omit `dbsnp_138_` and `dbsnp_144` files as we use `dbsnp_146`.
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The old ones also use the wrong chromosome naming convention.
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The Google Cloud mirror has all data in the `v0` directory, but requires you to remove the `resources_broad_hg38_v0_` prefixes from all files.
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The following files need to be downloaded:
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To annotate with COSMIC variants during MuTect1/2 Variant Calling you need to create a compatible VCF file.
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Download the coding and non-coding VCF files from [COSMIC](http://cancer.sanger.ac.uk/cosmic/download) and
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process them with the [Create\_Cosmic.sh](https://github.com/SciLifeLab/Sarek/tree/master/scripts/Create_Cosmic.sh)
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script for either GRCh37 or GRCh38. The script requires a fasta index `.fai`, of the reference file you are using.
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script for either GRCh37 or GRCh38.
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The script requires a fasta index `.fai`, of the reference file you are using.
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Example:
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## smallGRCh37
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Use `--genome smallGRCh37` to map against a small reference genome based on GRCh37. `smallGRCh37` is the default genome for the testing profile (`-profile testing`).
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Use `--genome smallGRCh37` to map against a small reference genome based on GRCh37.
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`smallGRCh37` is the default genome for the testing profile (`-profile testing`).
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## AWS iGenomes
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Sarek is using [AWS iGenomes](https://ewels.github.io/AWS-iGenomes/), which facilitate storing and sharing references.
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Both `GRCh37` and `GRCh38` are available with `--genome iGRCh37` or `--genome iGRCh38` respectively, it contains all data previously detailed.
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Both `GRCh37` and `GRCh38` are available with `--genome GRCh37` or `--genome GRCh38` respectively with any profile using the `conf/igenomes.config` file (eg.: `awsbatch`), or you can specify it with `-c conf/igenomes.config`, it contains all data previously detailed.
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