https://github.com/brentp/geneimpacts

prioritize effects of variant annotations from VEP, SnpEff, et al.

https://github.com/brentp/geneimpacts

Science Score: 33.0%

This score indicates how likely this project is to be science-related based on various indicators:

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  • codemeta.json file
    Found codemeta.json file
  • .zenodo.json file
  • DOI references
  • Academic publication links
    Links to: biorxiv.org
  • Committers with academic emails
    1 of 11 committers (9.1%) from academic institutions
  • Institutional organization owner
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  • Scientific vocabulary similarity
    Low similarity (8.4%) to scientific vocabulary

Keywords from Contributors

bioinformatics genomics reporting dna pypi
Last synced: 10 months ago · JSON representation

Repository

prioritize effects of variant annotations from VEP, SnpEff, et al.

Basic Info
  • Host: GitHub
  • Owner: brentp
  • License: mit
  • Language: Python
  • Default Branch: master
  • Homepage:
  • Size: 131 KB
Statistics
  • Stars: 34
  • Watchers: 3
  • Forks: 16
  • Open Issues: 6
  • Releases: 0
Created almost 11 years ago · Last pushed over 1 year ago
Metadata Files
Readme Changelog License

README.md

Given multiple snpEff or VEP or BCFTools consequence annotations for a single variant, get an orderable python object for each annotation.

Build Status

This is to provide a consistent interface to different variant annotations such as from snpEff ANN field and the VEP CSQ field. and the BCFTools consequence field

This will be used in gemini but should also be of general utility.

Design

There is an effect base-class and then a sub-class for snpEff, one for VEP, and one for BCFT

Effect objects are orderable (via __le__ ) and should have an __eq__ method so that we can use functools.total_ordering to provide the other comparison operators.

Given 2 effects objects, a and b: a < b == True iff the severity of b is greater than a.

We will have a classmethod: `Effect.top_severity([eff1, ... effn]) that will return the single highest severity if that exists or a list of the ties for highest

Rules for severity:

Given 2 annotations, a and b a is more severe than b if:

  1. b is a pseudogene and a is not
  2. a is coding and b is not
  3. a has higher severity than b ( see below)
  4. polyphen, then sift
  5. ??? transcript length? (we dont have access to this).

severity

Severity is based on the impacts from VEP and the impacts from snpEff. We reduce from the 4 categories HIGH, MODERATE, LOW, MODIFIER to 3 by renaming MODERATE to MED and renaming MODIFIER to LOW.

Owner

  • Name: Brent Pedersen
  • Login: brentp
  • Kind: user
  • Location: Oregon, USA

Doing genomics

GitHub Events

Total
  • Watch event: 1
  • Push event: 1
  • Pull request review event: 2
  • Pull request event: 3
  • Fork event: 2
Last Year
  • Watch event: 1
  • Push event: 1
  • Pull request review event: 2
  • Pull request event: 3
  • Fork event: 2

Committers

Last synced: over 1 year ago

All Time
  • Total Commits: 93
  • Total Committers: 11
  • Avg Commits per committer: 8.455
  • Development Distribution Score (DDS): 0.194
Past Year
  • Commits: 2
  • Committers: 2
  • Avg Commits per committer: 1.0
  • Development Distribution Score (DDS): 0.5
Top Committers
Name Email Commits
Brent Pedersen (brentp) b****e@g****m 75
roryk r****r@g****m 6
chapmanb c****b@5****m 3
Nilesh Patra n****h@n****o 2
naumenko.sa e****b@g****m 1
kew24 k****a@v****g 1
Emmanuel Arias e****u@y****m 1
Edward Betts e****d@4****m 1
Bradford Powell b****w@d****g 1
anastazie a****d@g****m 1
Andrew Oler a****r@n****v 1
Committer Domains (Top 20 + Academic)

Issues and Pull Requests

Last synced: about 1 year ago

All Time
  • Total issues: 9
  • Total pull requests: 18
  • Average time to close issues: 18 days
  • Average time to close pull requests: about 17 hours
  • Total issue authors: 8
  • Total pull request authors: 12
  • Average comments per issue: 1.22
  • Average comments per pull request: 2.33
  • Merged pull requests: 14
  • Bot issues: 0
  • Bot pull requests: 0
Past Year
  • Issues: 0
  • Pull requests: 1
  • Average time to close issues: N/A
  • Average time to close pull requests: about 3 hours
  • Issue authors: 0
  • Pull request authors: 1
  • Average comments per issue: 0
  • Average comments per pull request: 0.0
  • Merged pull requests: 1
  • Bot issues: 0
  • Bot pull requests: 0
Top Authors
Issue Authors
  • brentp (2)
  • slulla (1)
  • bpow (1)
  • naumenko-sa (1)
  • arq5x (1)
  • ilykos (1)
  • oleraj (1)
  • Luciagenetic (1)
  • ToonRosseel (1)
Pull Request Authors
  • chapmanb (5)
  • roryk (3)
  • eamanu (2)
  • naumenko-sa (1)
  • a113n (1)
  • EdwardBetts (1)
  • bpow (1)
  • leifdreizler (1)
  • wm75 (1)
  • kew24 (1)
  • oleraj (1)
  • anastazie (1)
  • nileshpatra (1)
Top Labels
Issue Labels
Pull Request Labels

Packages

  • Total packages: 1
  • Total downloads: unknown
  • Total dependent packages: 1
  • Total dependent repositories: 0
  • Total versions: 2
  • Total maintainers: 1
spack.io: py-geneimpacts

Given multiple snpEff or VEP or BCFTools consequence annotations for a single variant, get an orderable python object for each annotation.

  • Versions: 2
  • Dependent Packages: 1
  • Dependent Repositories: 0
Rankings
Dependent repos count: 0.0%
Average: 18.5%
Stargazers count: 22.9%
Forks count: 23.2%
Dependent packages count: 28.1%
Maintainers (1)
Last synced: 11 months ago

Dependencies

setup.py pypi