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Feature/breakends #564

Merged
merged 6 commits into from
May 21, 2019
Merged

Feature/breakends #564

merged 6 commits into from
May 21, 2019

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MalinAhlberg
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@MalinAhlberg MalinAhlberg commented May 21, 2019

Describe the pull request:

  • Bug fix
  • New feature

Pull request long description:

Add parser for MANTA-vcf files and adds breakends variants to the database model.

./scripts/manage.sh import --add_raw_data \
                   --dataset beacon_test \
                   --version 2030-01-01 \
                  --assembly_id "GRCh38" \
                   --add_mates \
                   --variant_file MANTA.vcf

Changes made:

Related changes:

  1. Add table data.mate and view beacon.beacon_mate_table.
  2. Add flag --add_mates to the importer, which will add all BNDs from the given vcf-file (instead of runnig _insert_variants()!)

Less related changes:

  1. Use PRIVATE instead of None as access type for beacon.available_datasets
  2. Small adjustments in code for reading files and logging
  3. Remove duplicated if

Open questions:

  • keep the sql mate table under data or beacon schema?
  • merge parsing of "normal" vcf files and MANTA or keep them separated?
  • should the imported variants be part of another dataset (eg SweGen)?
  • if so, how to calculate the counts for the whole dataset? Eg callCount and variantCount to store in beacon_dataset_counts_table. Are they the same as when reading the standard vcf, or do they change?
  • how to get the counts for each variants (variant- and callcount)? They are not included in the MANTA, as far as I can tell.
  • naming confusion: mate, fusion, breakend... What do we call what?

@viklund viklund merged commit 33c836b into develop May 21, 2019
@viklund viklund deleted the feature/breakends branch May 21, 2019 14:22
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2 participants