- Dec 16, 2019
-
- Dec 09, 2019
-
-
van den Berg authored
-
- Dec 04, 2019
-
-
van den Berg authored
-
- Dec 03, 2019
-
-
van den Berg authored
-
- Dec 02, 2019
-
-
van den Berg authored
Also update the argparse help text for the --discordant-vcf flag to refer to a regular VCF file, instead of a gzipped VCF file.
-
- Nov 26, 2019
-
-
van den Berg authored
Merge testing into master See merge request !6
-
- Nov 25, 2019
-
-
van den Berg authored
-
van den Berg authored
-
van den Berg authored
-
van den Berg authored
In the VCF files generated by GATK, DP is an integer, while the GQ field holds a float. ##FORMAT=<ID=DP,Number=1,Type=Integer ##FORMAT=<ID=GQ,Number=1,Type=Float
-
van den Berg authored
-
- Nov 19, 2019
-
-
van den Berg authored
-
- Nov 12, 2019
-
-
van den Berg authored
-
van den Berg authored
When GATK emits all sites, homref sites get the RQC annotation instead of the QC annotations. For vtools, these two annotations are used interchangeably, since they both contain genotype likelihoods. See the detailed explantation at https://gatkforums.broadinstitute.org/gatk/discussion/5115/haplotypecaller-genotypegvcfs-and-vqsr-for-alternatives-in-dbsnp
-
- Nov 04, 2019
-
-
van den Berg authored
When a vcf file contains calls for all specified positions, the ALT field will be empty if there is only a reference call in that position. This commits adds tests for this case.
-
- Oct 25, 2019
-
-
van den Berg authored
To fix this, we had to rewrite the logic used when comparing variants. As a side effect, 'allele_no_call' is now only counted for partial calls when they occur in the call set. The test case test_partial_positive_no_call was updated to reflect this change. Also fixed an error where the known and called variants were switched when they were being passed to parse_variants.
-
van den Berg authored
-
van den Berg authored
The actual genotypes are the same between gatk.vcf and gatk_ref_alt_changed.vcf, but the REF, ALT and corresponding genotype calls differ. This is to test if the conversion of genotype call (e.g. 1/3) to the actual genotype (e.g. A/T) is working as intended.
-
- Oct 24, 2019
-
-
van den Berg authored
-
van den Berg authored
-
van den Berg authored
Since it is not clear how we should handle non-diploid calls, we check if variants are haploid/polyploid and error out if this is the case.
-
van den Berg authored
-
van den Berg authored
Before, we would iterate over decomposed called variants until we found the variant where the REF and ALT matched the one in the positive vcf. However, this meant that sites where the called vcf had different ALTs could not be processed. To resolve this, we had to drop support for decomposed variants.
-
van den Berg authored
-
van den Berg authored
Since it is not clear how we should handle phased calls, we check if the variants are phased and error out if this is the case.
-
- Oct 23, 2019
-
-
van den Berg authored
Previously we used cyvcf2 gt_types, which indicate whether a site is hom_ref, heterozygous, hom_alt or unknown. A limitation of this approach is that it only makes sense when the two vcf files have the same REF and ALT alleles for a given position. If this was not the case, vtools would silently skip the variant. However, even when the ALT alleles are different between two vcf files, the actual genotypes can still be compared. This was implemented in this commit, which also fixes issue #8.
-
- Oct 22, 2019
-
-
van den Berg authored
-
van den Berg authored
-
Ruben Vorderman authored
-
Ruben Vorderman authored
-
Ruben Vorderman authored
-
van den Berg authored
-
van den Berg authored
There are two ways in which a variant can be no call. The variant can be present in the vcf file with a ./. genotype, or the variant can be missing from the vcf file altogether. This commit adds a test case to verify that no call sites are counted properly when they are missing from the called vcf file. Sites that are missing from the positive vcf file do not count towards alleles_no_call, since we do not care about variants which are not present in the positive vcf file.
-
van den Berg authored
cyvcf2 assigns 'no call' sites a DP and QC of -1, which caused the statistics to be off since we checked for 'no call' sites (i.e. gt=3) after all other checks. The check for 'no call' sites was moved up to make sure only true sites get to the QC/DP checks. Furthermore, the QC/DP checks are counted independenly, since a site can fail multiple checks. The test cases were updated to reflect these changes, and now all pass.
-
- Aug 27, 2019
-
-
van den Berg authored
-
van den Berg authored
-
van den Berg authored
-
van den Berg authored
-
- Aug 26, 2019
-
-
van den Berg authored
-
van den Berg authored
-