Git Product home page Git Product logo

Patrick Short's Projects

bio.jl icon bio.jl

Bioinformatics and Computational Biology Infrastructure for Julia

clinstudyweb icon clinstudyweb

This package was developed by Tim Rayner at the CIMR (Smith Lab) but has disappeared from CRAN/Bioconductor. Adding latest stable release to my page for anyone in the group to use.

dddmaps icon dddmaps

Mutability adjusted proportion of singletons calculation using synonymous SNPs from the DDD unaffected parents.

dddnoncoding2017 icon dddnoncoding2017

Code for paper published in March, 2017 analysing the role of de novo mutations in severe developmental disorders (part of the deciphering developmental disorders project).

de_novo_noncoding icon de_novo_noncoding

Description of R and Python code and other pipelines to test enrichment of de novo mutations in the DDD non-coding regions.

denovosim icon denovosim

Simulate de novo mutations using model based on trinucleotide mutation rate model introduced in Samocha et. al, 2014. Users can condition on number of patients in a study, and number of mutations observed. Updates to the model planned and tracked in issues section.

denovotf icon denovotf

Calculating change in binding affinity for predicted TF binding sites as a result of de novo mutations in non-coding regions. Uses JASPAR database for TF binding prediction.

gwc icon gwc

Method for generating genome-wide constraint metrics comparing observed to expected variation. Expected is calculated using an updated mutation rate model with sequence context + 32 additional features.

lens icon lens

A novel way of seeing content

mscentipede icon mscentipede

A hierarchical multiscale model for inferring transcription factor binding from chromatin accessibility data.

mupit icon mupit

De novo mutation recurrence significance testing

ncbi_data_scrape icon ncbi_data_scrape

use biopython entrez to pull useful data from ncbi (i.e. pubmed metadata)

repscan icon repscan

Scan list of de novo mutations against input gappedPeak or broadPeak files from the Roadmap Epigenomics Project (REP). Focus of the code base here is the identification of de novo mutations in regulatory regions that are active in development. As such, data used in example scripts will be primarily adult or fetal brain histone marks and DNAse hypersensitivity.

rupit icon rupit

Significance testing for recurrence of de novo regulatory mutations.

smithlabarray icon smithlabarray

This package was developed by Tim Rayner at the CIMR (Smith Lab) but has disappeared from CRAN/Bioconductor. Adding latest stable release to my page for anyone in the group to use.

tachyon icon tachyon

High-level API for storing and querying sequence variant data

Recommend Projects

  • React photo React

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

  • Vue.js photo Vue.js

    🖖 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. 📊📈🎉

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 ❤️ Open Source for everyone.

  • D3 photo D3

    Data-Driven Documents codes.