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add some docs on interpretation
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brentp committed Sep 21, 2018
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Expand Up @@ -41,6 +41,35 @@ duphold --threads 4 --vcf $svvcf --bam $cram --fasta $fasta --output $output.bcf

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

## Examples

#### Duplication

Here is a duplication with clear break-points (`DHD`) and clear
change in depth (`DHBFC`)

![image](https://user-images.githubusercontent.com/1739/45895409-5a224080-bd8e-11e8-844f-e7ffc13c7972.png "example IGV screenshot")

`duphold` annotated this with

+ **DHD**: 2
+ **DHBFC**: 1.79

where together these indicate rapid (DUP-like) change in depth at the break-points and a coverage that 1.79 times higher than the mean for the genome--again indicative of a DUP. Together, these recapitulate (or anticipate) what we see on visual inspection.

#### Deletion

A clear deletion will have rapid drop in depth at the left and increase in depth at the right and a lower mean coverage.

![image](https://user-images.githubusercontent.com/1739/45895721-2dbaf400-bd8f-11e8-88b3-9fd5a90ef39e.png)

`duphold` annotated this with:

+ **DHD**: -2
+ **DHBFC**: 0.6

These indicate that both break-points are consistent with a deletion and that the coverage is ~60% of expected. So this is a clear deletion.

## Acknowledgements

I stole the idea of annotating SVs with depth-change from Ira Hall.

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