Giter VIP home page Giter VIP logo

geneimpacts's Introduction

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 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 and the impacts from snpEff. We reduce from the 4 categories HIGH, MEDIUM, LOW, MODIFIER to 3 by renaming MEDIUM to MED and renaming MODIFIER to LOW.

geneimpacts's People

Contributors

brentp avatar roryk avatar chapmanb avatar bpow avatar anastazie avatar naumenko-sa avatar

Watchers

James Cloos avatar Fang Yin Lo avatar

Recommend Projects

  • React photo React

    A declarative, efficient, and flexible JavaScript library for building user interfaces.

  • Vue.js photo Vue.js

    ๐Ÿ–– Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.

  • Typescript photo Typescript

    TypeScript is a superset of JavaScript that compiles to clean JavaScript output.

  • TensorFlow photo TensorFlow

    An Open Source Machine Learning Framework for Everyone

  • Django photo Django

    The Web framework for perfectionists with deadlines.

  • D3 photo D3

    Bring data to life with SVG, Canvas and HTML. ๐Ÿ“Š๐Ÿ“ˆ๐ŸŽ‰

Recommend Topics

  • javascript

    JavaScript (JS) is a lightweight interpreted programming language with first-class functions.

  • web

    Some thing interesting about web. New door for the world.

  • server

    A server is a program made to process requests and deliver data to clients.

  • Machine learning

    Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.

  • Game

    Some thing interesting about game, make everyone happy.

Recommend Org

  • Facebook photo Facebook

    We are working to build community through open source technology. NB: members must have two-factor auth.

  • Microsoft photo Microsoft

    Open source projects and samples from Microsoft.

  • Google photo Google

    Google โค๏ธ Open Source for everyone.

  • D3 photo D3

    Data-Driven Documents codes.