cfe-lab / cfe-lab/MiCall

Decide what to do with coverage reporting in presence of large deletions.

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

Description

Decide what to do with coverage reporting in presence of large deletions.

Currently, we can have following two cases:

  1. query aligned as 100M600D100M somewhere in the reference. Then coverage values for the big deletion in the middle are missing. (reference region is not covered by query)
  2. query aligned as 100M599D100M somewhere in the reference. Then coverage values for the big deletion in the middle are present (reference region is covered by query).

The threshold of 600 deletions is sort of arbitrary.

We would like to develop a better decision procedure on what to report as "coverage".
Possibly, one that looks into the individual reads (from fastq files) in order to see whether it was the reads that spanned the big deletion, or whether the query is two separate consensus sequences "stitched" together.

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Research direction

No source file or test is named. Start by tracing the coverage-reporting path for alignments containing large deletions, then compare the 100M600D100M and 100M599D100M cases described here. Done requires an agreed decision procedure and coverage tests that distinguish these cases, including whether read-level FASTQ evidence is needed.

Written by the indexing model from the issue text.

Assessment

Tech stack
python
Domain
bioinformatics
Issue type
Feature
Difficulty
5/5
Estimated time
Over a week
Activity status
Stale
Clarity
Needs clarification
Newbie friendliness
25/100

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