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Variant not in sample (VarDict VCF issue?) #1053

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davmlaw opened this issue Apr 29, 2024 · 3 comments
Closed

Variant not in sample (VarDict VCF issue?) #1053

davmlaw opened this issue Apr 29, 2024 · 3 comments
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@davmlaw
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davmlaw commented Apr 29, 2024

I looked at a variant - https://variantgrid.com/variantopedia/view_variant/242383859 in 210628 VCF in an analysis

If you look at the variant, it doesn't list it as being in any samples (though should be in that one)

global zygosity count did run on that VCF, but it didn't seem to affect anything

If you classify, then select the sample, it says it's not in there.

@davmlaw davmlaw added the bug Something isn't working label Apr 29, 2024
@davmlaw davmlaw added this to the SA Path VG 4 milestone Apr 29, 2024
@davmlaw
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davmlaw commented May 17, 2024

Example in test:

In [5]: Variant.objects.get(pk=1286084).cohortgenotype_set.all().count()
Out[5]: 2

Checked out why vsi.has_observations is False saw a warning while initialising:

In [15]: vsi = VariantSampleInformation(user, v, GenomeBuild.grch37())
WARNING CohortGenotypeCollection 27 out of date with Cohort.version
WARNING CohortGenotypeCollection 53 out of date with Cohort.version

I think this is a test to deal with cohorts being modified - but that shouldn't apply here as that should never change as it's from a VCF

The question is why the CohortGenotypeCollection.cohort_version is out of date

I think it may be due to the "common" one being different? It is v0 while cohort.version = 1 on vgaws sample in analysis given in issue above

I will disable the check for versions at the moment - will figure out the details later

@davmlaw
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davmlaw commented May 20, 2024

In method create_cohort_genotype_collection - creating CohortGenotypeCollection we deliberately set the common one to 0 and comment:

 cohort_version=0,  # so it isn't retrieved

Then I looked on the model:

 unique_together = ('cohort', 'cohort_version')

So it looks like we're doing it as a workaround to avoid the unique_together?

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davmlaw commented May 31, 2024

testing vg test - samples with variant appear now

TheMadBug added a commit that referenced this issue Jun 18, 2024
* Panal App VUS/GUS relationship download

* Panal App VUS/GUS relationship download

* Providing methods to find more useful relationships between term and gene symbol for report

* issue #2647 - liftover refactor

* issue #2647 - start of bcftools liftover

* Issue #2647 - BCFTools liftover

* Issue #2647 - Remove vestigial NCBI remap traces

* Issue #2647 - enable in vg test

* Stop warning that doesn't apply here

* Issue #2647 - be able to create variant for long ones...

* This occasionally failed - execution continued after asking to change window

* issue #1054 - make bcftools liftover part of standard ANNOTATION settings

* issue #1054 - misc liftover issues

* Issue #1052 - analysis template version

* Make VEP have version in path

* Shariant test config - enable BCFTools liftover

* Upload initially shows error wrongly in pipeline race condition

* issue #818 - don't uniq on preprocess anymore

* issue #1056 - vcf_clean_and_filter convert contig headers

* issue #1057 - VEP deployment change to explicit version

* vg test config

* issue #980 - karyomapping use symbol instead of gene

* Renamed counts to Counts(germline only) on overlaps page (#1046)

* Fix issue where alleleOriginToggle was being called with undefined

* WIP fixing conda dependencies

* Update of conda environment (works again in conda)

* Add new evidence key for somatic testing

* Show better quick clinical significance values (for somatic and germline)

* Fix recently introduced bug in suggested terms for an allele

* Allow link for condition matching to appear on a classification even when not in edit mode

* issue #1059 - all variants node

* issue #1059 - all variants node

* Adjust node counts a little

* issue #1043 - export VCF

* Tidy up server status page removing redundant data (now go to Overall Status)

* Fix the evidence key values

* Get c.HGVS showing properly on variant details page again

* issue #758 - configure quick links via settings

* More comments in conda file

* Move condition text match from classification.html to JSON to keep things in sync
More requirements on when you will be linked to condition resolution

* Style fixes for new liftover

* Put liftover date on form

* Move overall data to the splash server status page

* Add Clinical Trails gov to quick links

* Add liftover to settings menu if variants menu disabled

* Update shariant prod settings to use VEP v108

* Make liftover page side menu change based on settings

* Better wording for changing clinical contexts within a discordance

* Tighten up the handling of embedded card or modal (used for triage but affected other modals by mistake)

* Better safety around condition text relationships

* For view metrics use heading of "Users" not "User"

* Add overall stats to liftover pages

* Slight formatting on liftover note

* Rework the internals of the view user activity reports

* More styling on liftover runs page

* More styling on liftover pages

* Tiny column alignment issue on liftover

* linting

* Fix exclusion of blank searches in metrics

* Subtle change of header wording for activity report

* Improve the formatting of missing IDs when making a batch for ClinVar

* Proper int to string handling for missing IDs

* issue #758 - quick links via settings

* Reworking of Lab Differences using new zippable functionality for ExportRow

* Put the allele URL into the lab compare (I think it was there before)

* Enable SEARCH_HGVS_GENE_SYMBOL_USE_MANE for shariant test

* Also try enabling SEARCH_HGVS_GENE_SYMBOL

* Fix bug where condition URL was calculated before seeing if we had condition text

* Enable extra variant annotations for testing

* Attempt at parsing OncogenicityClassification for pulling in ClinVar records

* issue #1193 - analysis audit log

* issue #1193 - analysis audit log

* issue #1193 - analysis audit log

* issue #1193 - analysis audit log

* issue #1193 - analysis audit log

* variantgrid_private#1193 - Audit log for analysis

* Get audit log name right in requirements

* issue #1060  - variant details page, create allele for all variants not just shorty clingen ones

* Sometimes can't reload analysis #1061

* issue #1193 - disable audit log for template copies etc

* issue #1193 - Audit log for analysis - click to expand and see JSON

* issue #1193 - Don't audit node cloning (was causing tests to fail)

* temp fix for #1053 - will work out data fix later

* Better categorising of ClinVar's Somatic/Germline records

* issue #1053 - cohort genotype versions - make common cohort version match cohort.version

* linting - format whitespace

* linting - remove unused imports

* Unused file

* linting - f string w/o interpolation

* linting - use generator

* Increase the ClinVar parser version to purge old cache

* Add django-audit-log to conda environment

* ClinVar REcords More work on parsing condition

* issue #1053 - missing import, make sure we retrieve only 1 cgc per cohort

* issue #877 - Export column - c_hgvs_compat

* Add MeSH as a non-local ontology set

* Ability to render multiple conditions against a single ClinVar record

* Don't abbreviate ref/alt in VCF

* Fix bug with filtering out non-human clinvar records

* Count homo sapiens, homo-sapiens, homosapiens the same as human for ClinVar records

* A script to close manually raised flags

* Raise classification change flag for both Classification and Somatic Clinical Significance

* Filter based on creator of flag

* Added prefixed clinvar batch export CB_ and clinvar export CE_ search functionality (#1066)

* issue #3604 - COSMIC search

* Update changelog

* Tidy up code for close flags, allow it to re-open flags

* Bug fixes for the condition checking code

* panalapp work

* PanelApp Compare: Fixes to stop infinite recurssion, correct method signatures.

* #3591 panel app export

---------

Co-authored-by: TheMadBug <[email protected]>
Co-authored-by: Dave Lawrence <[email protected]>
@davmlaw davmlaw closed this as completed Aug 18, 2024
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