cfe-lab / cfe-lab/MiCall

Force insertions to align with codon boundaries

Open
#379 3 comments 0 reactions 0 assignees View on GitHub

Nobody has claimed this yet.

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

Description

In the 09-Dec-2016.M01841 run, sample PNL4-3-1-V3LOOP_S73 reported a strange consensus sequence.

After digging into the problem, we found that a six-base insertion wasn't aligned with the codon boundaries. Here's a portion of the HIV1B-env reference we use, with the usual insertion marked with dashes:

AGTATACATATA------GGACCAGGG

The amino acid equivalent is:

SIHIGPG

Here's a portion of one of the sample's reads, as bowtie2 aligned it with the reference below:

AGTATCCGTATCCAGAGGGGACCAGGG
AGTATACATAT------AGGACCAGGG

You can see that the insertion is base to the left of its usual position. That pulls the G from the right side of the insertion over to the left, and is translated as the following amino acid sequence:

SIRMGPG

One possible solution: if an insertion's length is a multiple of three, then force it to align with the codon boundaries. For now, just choose the closest codon boundary.

Contributor guide

No contributing guide indexed for this repository

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

The issue names no files or tests; start by locating the consensus and alignment handling for insertions in the MiCall pipeline and reproduce the 09-Dec-2016.M01841 case. Done means a six-base insertion is placed at the closest codon boundary and produces the intended translated sequence.

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
45/100

Get new issues in your inbox

A short digest of beginner-friendly GitHub issues.