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Klinische Genetica
capture-lumc
vtools
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21db43a3
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21db43a3
authored
5 years ago
by
Sander Bollen
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@@ -101,4 +101,33 @@ Options:
--help
Show this message and exit.
```
### vtools-evaluate
Evaluate a VCF file to a baseline VCF file containing true positives.
We only consider variants that are present in both VCF files. This makes
it useful when the two VCF files have been produced by wildly different
technologies. E.g, when comparing a WES VCF file vs a SNP array, this
tool can be quite useful.
Output is a simple JSON file listing counts of concordant and discordant
alleles.
vtools-evaluate only considers one sample. Multisample VCF files are allowed;
the sample to be evaluated has to be set through a CLI argument.
#### Usage
```
bash
Usage: vtools-evaluate
[
OPTIONS]
Options:
-c
,
--call-vcf
PATH Path to VCF with calls to be evaluated
[
required]
-p
,
--positive-vcf
PATH Path to VCF with known calls
[
required]
-cs
,
--call-samples
TEXT Sample
(
s
)
in
call-vcf to consider. May be
called multiple
times
[
required]
-ps
,
--positive-samples
TEXT Sample
(
s
)
in
positive-vcf to consider. May be
called multiple
times
[
required]
--help
Show this message and exit.
```
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