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remove mention of cadd2vcf
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brentp committed Aug 1, 2018
1 parent def888c commit b4f48a1
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20 changes: 3 additions & 17 deletions docs/examples/cadd.md
Expand Up @@ -6,31 +6,17 @@ This documents how to use `vcfanno` to annotate a VCF with CADD scores.
*"CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome."*
Users of CADD should refer to the [web page](http://cadd.gs.washington.edu/info) for citation and use requirements.

Setup
-----

In order to use CADD with `vcfanno`, we must convert the tsv format provided by CADD to VCF. We can do this with [a
python script](https://github.com/brentp/vcfanno/blob/master/scripts/cadd2vcf.py). After downloading the *All possible SNVs of GRCh37/hg19* filre from the [CADD website](http://cadd.gs.washington.edu/download) we can run as:

```
python cadd2vcf.py whole_genome_SNVs.tsv.gz | bgzip -c > cadd_v1.3.vcf.gz
tabix cadd_v1.3.vcf.gz
```

This will create a 50GB vcf.gz from the 80GB tsv.gz.
The entirety of the INFO field for a given record will look like: "raw=0.34;phred=6.05"

Config
------

From here, we can specify a conf file:

```
[[annotation]]
file="cadd_v1.3.vcf.gz"
names=["cadd_phred", "cadd_raw"]
file="whole_genome_SNVs.tsv.gz"
names=["cadd_raw", "cadd_phred"]
ops=["mean", "mean"]
fields=["phred", "raw"]
columns=[4, 5]
```

Annotation
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47 changes: 0 additions & 47 deletions scripts/cadd2vcf.py

This file was deleted.

2 changes: 1 addition & 1 deletion vcfanno.go
Expand Up @@ -25,7 +25,7 @@ import (
"github.com/brentp/xopen"
)

var VERSION = "0.3.0-dev"
var VERSION = "0.3.0"

func envGet(name string, vdefault int) int {
sval := os.Getenv(name)
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