cfe-lab / cfe-lab/MiCall

Insertion counts for small insertions that change the reading frame

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

Description

Sample JLAT1-HIV_S217 from run 190501_M05995 has an insertion of length 2 in GP120. Because this insertion is in the middle of a codon and changes the reading frame, there is a non-covered amino acid in amino.csv at this position (at reference amino position 60, query nuc positions 5753 and 5754 are insertions).
However, no insertion counts are recorded in amino.csv and nuc.csv. This is because the code that records insertions treats them as chunks of 3 bases, and therefore misses this small insertion of length 2, see here:
The best solution would probably be to switch the insertion counting to 1-based positions to better reflect insertions whose length is not a multiple of three.

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Research direction

Start in micall/utils/consensus_aligner.py around the insertion-counting code linked in the issue, and trace how insertions reach amino.csv and nuc.csv. Reproduce the JLAT1-HIV_S217 example from run 190501_M05995, then verify that the length-2 insertion at reference amino position 60 is counted in both outputs without breaking other insertion cases.

Written by the indexing model from the issue text.

Assessment

Tech stack
python
Domain
bioinformatics
Issue type
Bug
Difficulty
4/5
Estimated time
3-5 days
Activity status
Stale
Clarity
Mostly clear
Newbie friendliness
38/100

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