diff --git a/README.md b/README.md index 0db1135..1f1c080 100644 --- a/README.md +++ b/README.md @@ -15,13 +15,75 @@ curl -sL mutserve.vercel.app | bash ``` ## Documentation -Full documentation for mutserve can be found [here](https://mitoverse.readthedocs.io/mutserve/mutserve/). + +### Quick Start +Mutserve requires sorted and indexed CRAM/BAM files as an input. + +``` +curl -sL mutserve.vercel.app | bash +./mutserve +``` + +### Available Tools +Currently two tools are available. + +* **call**: Variant Calling of homoplasmic and heteroplasmic positions. +* **annotate**: Annotation of mutserve variants (generated with `mutserve call`). + +### Mutserve Variant Calling + +``` +wget https://github.com/seppinho/mutserve/raw/master/test-data/mtdna/bam/input/HG00096.mapped.ILLUMINA.bwa.GBR.low_coverage.20101123.bam +curl -sL mutserve.vercel.app | bash +./mutserve call --reference rCRS.fasta --output HG00096.vcf.gz --threads 4 *.bam +``` + +Please use [this reference file](https://raw.githubusercontent.com/seppinho/mutserve/master/files/rCRS.fasta) when using BAQ (disabled by default since v2.0.0). + +### Mutserve Annotation + +Mutserve allows to annotate the variant file (.txt) with a predefined [annotation file](https://raw.githubusercontent.com/seppinho/mutserve/master/files/rCRS_annotation_2020-08-20.txt) + +``` +./mutserve annotate --input variantfile.txt --annotation rCRS_annotation_2020-08-20.txt --output AnnotatedVariants.txt +``` + +### Parameters + +| Parameter | Default Value / Comment | Command Line Option | +| ------------- |:-------------:| :-------------:| +| Input Files | sorted and indexed BAM/CRAM files | | +| Output Name | output file; supported: \*.txt, \*.vcf, \*vcf.gz | `--output` | +| Reference | reference file | `--reference` | +| Threads | 1 | `--threads`| +| Minimum Heteroplasmy Level | 0.01 | `--level`| +| Define specific mtDNA contig in whole-genome file | null | `--contig-name`| +| Output Fasta | false | `--writeFasta`| +| Output Raw File | false | `--writeRaw`| +| MappingQuality | 20 | `--mapQ`| +| BaseQuality | 20 | `--baseQ`| +| AlignmentQuality | 30 | `--alignQ`| +| Enable Base Alignment Quality (BAQ) | false | `--baq`| +| Disale 1000 Genomes Frequence File | false | `--noFreq`| +| Call deletions (beta) | false | `--deletions`| +| Call insertions (beta) | false | `--insertions`| +| Disable ANSI output | | `--no-ansi`| +| Show version | | `--version`| +| Show help | | `--help`| + +## Output Formats + +### Tab delimited File +By default (`--output filename` does not end with .vcf or .vcf.gz) we export a TAB-delimited file including *ID, Position, Reference, Variant & VariantLevel*. Please note that the *VariantLevel* always reports the non-reference variant level. The output file also includes the **most** and **second most base** at a specific position (MajorBase + MajorLevel, MinorBase+MinorLevel). The reported variant can be the major or the minor component. The last column includes the type of the variant (1: Homoplasmy, 2: Heteroplasmy or Low-Level Variant, 3: Low-Level Deletion, 4: Deletion, 5: Insertion). See [here](https://raw.githubusercontent.com/seppinho/mutation-server/master/test-data/results/variantsLocal1000G) for an example. + +### VCF +If you want a **VCF** file as an output, please specify `--output filename.vcf.gz`. Heteroplasmies are coded as 1/0 genotypes, the heteroplasmy level is included in the FORMAT using the **AF** attribute (allele frequency) of the first non-reference allele. Please note that indels are currently not included in the VCF. This VCF file can be used as an input for https://github.com/seppinho/haplogrep-cmd. ## Limitations -The focus of mutserve is currenly on SNP calling and not on indels. +The focus of mutserve is currenly on SNP calling and not on indels. Please checkout [mtDNA-Server 2](https://github.com/genepi/mtdna-server-2/) to combine SNV with InDel Calling. ## Contact -See [here](https://mitoverse.readthedocs.io/contact/). +[Sebastian Schoenherr](mailto:sebastian.schoenherr@i-med.ac.at) ## Citation