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brentp committed Sep 7, 2018
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12 changes: 11 additions & 1 deletion README.md
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Expand Up @@ -6,7 +6,7 @@ information for filtering variants; for example **we will be skeptical of deleti
do not have lower than average coverage** compared to regions with similar gc-content.


It takes a **bam/cram**, a **VCF/BCF** of SV calls, and a **fasta** reference and it updates the FORMAT field for a
`duphold` takes a **bam/cram**, a **VCF/BCF** of SV calls, and a **fasta** reference and it updates the FORMAT field for a
single sample with:

+ **DHZ**: z-score for the variant depth *relative to the rest of the chromosome* the variant was found on.
Expand All @@ -16,6 +16,12 @@ single sample with:

It also adds **GCF** to the INFO field indicating the fraction of G or C bases in the variant.

## Install

`duphold` is distributed as a binary [here] and requires libhts.so in standard locations or indicated with `LD_LIBRARY_PATH`.



## Usage

```
Expand All @@ -24,3 +30,7 @@ duphold --threads 4 --vcf $svvcf --bam $cram --fasta $fasta --output $output.bcf
```

the threads are decompression threads so increasing up to about 4 works.

## Acknowledgements

I stole this idea from Ira Hall.

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