cfe-lab / cfe-lab/MiCall

Fail for contamination at yellow coverage

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#362 1 comment 0 reactions 0 assignees View on GitHub

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enhancement
Dominant language
Python
Stars
21
Forks
11
Avg merge
12h 5m
Merged PRs (30d)
24

Description

Chanson asked that we not fail a sample for a tiny amount of contamination, such as ten read pairs. We're going to try using the same rules for on-target and off-target scores. If the region was off-target, but it has coverage of at least 50 at all key positions, then it should fail the sample.

  • Fail a sample for off-target regions with yellow coverage.
  • Display any off-target regions that caused a failure, even in clinical mode.

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First steps

  1. Read the whole issue, then the project's contributing guide.
  2. Comment on the issue to say you are picking it up — it saves two people doing the same work.
  3. Fork the repository and make your change on a branch.
  4. Open a pull request that references the issue number.

Research direction

No files, tests, or entry points are named. Start by locating the coverage classification and sample-failure logic, then find tests for off-target contamination and clinical-mode reporting. Done means tiny contamination does not fail a sample, qualifying yellow off-target coverage does, and the regions causing failure are displayed in clinical mode.

Written by the indexing model from the issue text.

Assessment

Tech stack
python
Domain
bioinformatics
Issue type
Feature
Difficulty
4/5
Estimated time
3-5 days
Activity status
Stale
Clarity
Mostly clear
Newbie friendliness
35/100

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