Skip to main content

normalize effects from variant annotation tools (snpEff, VEP)

Project description

Given multiple snpEff or VEP or BCFTools consequence 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).
and the [BCFTools consequence field](http://biorxiv.org/content/early/2016/12/01/090811)

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`, 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](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-0.3.1.tar.gz (36.6 kB view details)

Uploaded Source

File details

Details for the file geneimpacts-0.3.1.tar.gz.

File metadata

  • Download URL: geneimpacts-0.3.1.tar.gz
  • Upload date:
  • Size: 36.6 kB
  • Tags: Source
  • Uploaded using Trusted Publishing? No

File hashes

Hashes for geneimpacts-0.3.1.tar.gz
Algorithm Hash digest
SHA256 03b2c5ca07dd490472329981cf9700d1473780451f052be7459c644ce7f31a50
MD5 160664bc41fbee3e9d4fd62785f4af68
BLAKE2b-256 7e01cbb6820939cc08bab0a9b4487836523608e94928ff626204c42cb70db42b

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