AlexsLemonade / AlexsLemonade/refinebio

Gene fusions are of interest in the childhood cancer space.

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Dominant language
Python
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Description

We may consider a processor that will convert fastq files -> gene fusion calls. @drtamermansour shared this paper that has a current benchmark.
https://www.nature.com/articles/srep21597

As this is not an immediate-term goal, I'm creating this to track thoughts in this space.

Contributor guide

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Research direction

Start by reading the linked Nature paper and the issue discussion, although no implementation files, tests, or entry points are identified. Clarify the intended FASTQ input, gene-fusion call output, benchmark criteria, and project scope before implementation; done would require an agreed processor design and validation plan.

Written by the indexing model from the issue text.

Assessment

Domain
bioinformatics
Issue type
Feature
Difficulty
5/5
Estimated time
Over a week
Activity status
Stale
Clarity
Needs clarification
Newbie friendliness
20/100

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