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bcftools to the rescue #7456

Merged
merged 43 commits into from
Sep 27, 2021
Merged

bcftools to the rescue #7456

merged 43 commits into from
Sep 27, 2021

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RoriCremer
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@RoriCremer RoriCremer commented Sep 4, 2021

Keeping the dockstore as is for now because I may want to run this on a few shards from the 30k while it's still in review

This pr adds a fair amount of work to the bcftools task (ExtractAnAcAfFromVCF) and adds a significant number of columns to the schema: the sample count for all of the samples, as well as for each subpopulation.

Note that AC_hemi will be added in a follow on pr
Note that additional validation tests will be added in a follow on pr

@RoriCremer RoriCremer changed the base branch from master to ah_var_store September 4, 2021 03:43
@RoriCremer RoriCremer marked this pull request as ready for review September 11, 2021 15:53
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a couple small changes, otherwise 👍🏻

WHERE
gvs_all_ac != gvs_afr_an + gvs_amr_an + gvs_eas_an + gvs_eur_an + gvs_mid_an + gvs_oth_an + gvs_sas_an'

# if the result of the query has any rows, that means gvs_all_an has not been calulated correctly/
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nit

Suggested change
# if the result of the query has any rows, that means gvs_all_an has not been calulated correctly/
# if the result of the query has any rows, that means gvs_all_an has not been calculated correctly

# ------------------------------------------------
# Output: {"Name of validation rule": "PASS/FAIL plus additional validation results"}
output {
Map[String, String] result = {"SubpopulationAlleleCount": read_string('validation_results.txt')}
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Suggested change
Map[String, String] result = {"SubpopulationAlleleCount": read_string('validation_results.txt')}
Map[String, String] result = {"SubpopulationAlleleNumber": read_string('validation_results.txt')}

@RoriCremer RoriCremer merged commit 6893a9b into ah_var_store Sep 27, 2021
@RoriCremer RoriCremer deleted the rc-VS-bcttools-to-the-rescue branch September 27, 2021 19:15
This was referenced Mar 17, 2023
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2 participants