Skip to main content

normalize effects from variant annotation tools (snpEff, VEP)

Project description

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

[![Build Status](https://travis-ci.org/brentp/geneimpacts.svg?branch=master)](https://travis-ci.org/brentp/geneimpacts)

This is to provide a consistent interface to
different variant annotations such as from [snpEff ANN field](http://snpeff.sourceforge.net/) and the [VEP CSQ field](http://www.ensembl.org/info/docs/tools/vep/index.html).

This will be used in [gemini](http://gemini.rtfd.org/) but should also be of
general utility.

Design
======

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

`Effect` objects are orderable (via \_\_le\_\_ ) and should have an \_\_eq\_\_ method so that we can use [functools.total_ordering](https://docs.python.org/2/library/functools.html#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 serverity 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](http://uswest.ensembl.org/info/docs/tools/vep/script/vep_other.html#pick)
and the [impacts from snpEff](http://snpeff.sourceforge.net/VCFannotationformat_v1.0.pdf). We reduce from the 4 categories HIGH, MEDIUM, LOW, MODIFIER to 3 by renaming MEDIUM to MED and renaming MODIFIER to LOW.

Project details


Download files

Download the file for your platform. If you're not sure which to choose, learn more about installing packages.

Source Distribution

geneimpacts-0.2.0.tar.gz (28.8 kB view details)

Uploaded Source

File details

Details for the file geneimpacts-0.2.0.tar.gz.

File metadata

  • Download URL: geneimpacts-0.2.0.tar.gz
  • Upload date:
  • Size: 28.8 kB
  • Tags: Source
  • Uploaded using Trusted Publishing? No

File hashes

Hashes for geneimpacts-0.2.0.tar.gz
Algorithm Hash digest
SHA256 d8ee8ef834fdacbb15be8e1d0fba56e1bd43e9a018b3315e705a50c3b66fd217
MD5 49b1505e4946336ee399d6bd2ebf2b17
BLAKE2b-256 c800d1d713a340e7bea720d09202c5f0a5b5744fd8e10b7451462887b48d4f7e

See more details on using hashes here.

Supported by

AWS AWS Cloud computing and Security Sponsor Datadog Datadog Monitoring Fastly Fastly CDN Google Google Download Analytics Microsoft Microsoft PSF Sponsor Pingdom Pingdom Monitoring Sentry Sentry Error logging StatusPage StatusPage Status page