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seppinho authored Jun 6, 2024
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Mutserve2 is a variant caller for the mitochondrial genome to detect homoplasmic and heteroplasmic sites in sequence data.

We recommend to use our [Nextflow DSL2 pipeline for mtDNA-Server 2](https://github.com/genepi/mtdna-server-2) which includes mutserve2.
For easier execution and pre- and postprocessing steps, mutserve2 has been integrated into the [mtDNA-Server 2](https://github.com/genepi/mtdna-server-2)

## Standalone Quick Start
## Quick Start
Mutserve requires sorted and indexed CRAM/BAM files as an input.

```
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## Documentation

### 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.

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| Show version | | `--version`|
| Show help | | `--help`|

## Output Formats
### Output Formats

### Tab delimited File
#### 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
#### 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
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