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https://github.com/ryanlayer/svv

Stupid Simple Structural Variant View
https://github.com/ryanlayer/svv

Last synced: 4 months ago
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Stupid Simple Structural Variant View

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# Stupid Simple Structural Variant View

A two-step process that can help visualize the coverage near a variant across multiple BAMs.

Step 1: Create a coverage file for each variant in a VCF. (NOTE: use [GQT](https://github.com/ryanlayer/gqt), [bcftools](https://github.com/samtools/bcftools), [bedtools](https://github.com/arq5x/bedtools2) etc to filter your full VCF down to a more interesting/managable subset.)

$ bcftools view test/test.vcf.gz | ./sv_depth.py test/test.ped 1000

`sv_depth.py` creates a covrage file "var_ID.txt" for each SV in the VCF, where ID is the variant ID (3rd column of the variant record). In this case, `test/test.vcf.gz` has two variants, `DEL_pindel_18715` and `UW_VH_5456`, and so it creates `var_DEL_pindel_18715.txt` and `var_UW_VH_5456.txt`. The two parameters to `sv_depth.py` are the ped file (where the 8th column is a path to the BAM files) and a the distance up and down stream of the the SV that is inclued in the coverage file.

Step 2: Visualize these coverages with `spark.py`, which takes an exome file, a map from transcrip to gene name, and an ouputfile.

$ cat var_DEL_pindel_18715.txt \
| ./spark.py \
-e data/h37_ensemble_exons.bed.gz \
-n data/h37_ensemble_exons.togenename.txt \
-o var_DEL_pindel_18715.png

![var_DEL_pindel_18715.png](test/var_DEL_pindel_18715.png)

$ cat var_UW_VH_5456.txt \
| ./spark.py \
-e data/h37_ensemble_exons.bed.gz \
-n data/h37_ensemble_exons.togenename.txt \
-o var_UW_VH_5456.png

![var_UW_VH_5456.png](test/var_UW_VH_5456.png)