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Bundle Update: callVariant & parseVEP #903

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merged 9 commits into from
Mar 5, 2025
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@zhuchcn zhuchcn commented Mar 3, 2025

Description

Fixed

  • Fixed callVariant that variant bubble not identified correctly.

  • Fixed parseVEP that failed records will now be skipped with --skip-failed. a variant crashes the parseVEP #902

  • Fixed callVariant with variant bubble finding error starting from a out-bridge node.

  • Fixed callVariant that peptide annotation not created correctly with SEC

Changed

  • A check added when converting a genomic location to gene coordinate to ensure they overlap.

Closes #...

Checklist

  • This PR does NOT contain PHI or germline genetic data. A repo may need to be deleted if such data is uploaded. Disclosing PHI is a major problem.
  • This PR does NOT contain molecular files, compressed files, output files such as images (e.g. .png, .jpeg), .pdf, .RData, .xlsx, .doc, .ppt, or other non-plain-text files. To automatically exclude such files using a .gitignore file, see here for example.
  • I have read the code review guidelines and the code review best practice on GitHub check-list.
  • The name of the branch is meaningful and well formatted following the standards, using [AD_username (or 5 letters of AD if AD is too long)]-[brief_description_of_branch].
  • I have added the major changes included in this pull request to the CHANGELOG.md under the next release version or unreleased, and updated the date.
  • All test cases passed locally.

@zhuchcn zhuchcn marked this pull request as ready for review March 3, 2025 21:33
@zhuchcn zhuchcn changed the title Fix callVariant: the in-member end node not t reated as an end node when aligning variant bubble Bundle Update: callVariant & parseVEP Mar 4, 2025
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zhuchcn commented Mar 5, 2025

Fuzz test good after 10,870 cases.

---------------------------------------------------------
|                  FUZZ TEST SUMMARY                    |
---------------------------------------------------------
|                       pass    fail    none    total   |
| ----------------------------------------------------- |
| snv                   2710    0       0       2710    |
| indel                 2850    0       0       2850    |
| comprehensive         5310    0       0       5310    |
| ----------------------------------------------------- |
| sum                   10870   0       0       10870   |
---------------------------------------------------------

@zhuchcn zhuchcn merged commit e6fb717 into main Mar 5, 2025
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@zhuchcn zhuchcn deleted the czhu-fix-call-variant branch March 5, 2025 01:55
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