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Name: Patrick Short
Type: User
Bio: Co-founder / CEO of Sano Genetics. Previously: mathematical genomics and medicine researcher at the Wellcome Trust Sanger Institute.
Location: Cambridge, UK
Name: Patrick Short
Type: User
Bio: Co-founder / CEO of Sano Genetics. Previously: mathematical genomics and medicine researcher at the Wellcome Trust Sanger Institute.
Location: Cambridge, UK
A curated list of awesome things related to Bitcoin Cash
Bioinformatics and Computational Biology Infrastructure for Julia
Access to Biological Web Services from Python.
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.
Mutability adjusted proportion of singletons calculation using synonymous SNPs from the DDD unaffected parents.
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).
Description of R and Python code and other pipelines to test enrichment of de novo mutations in the DDD non-coding regions.
Public facing deeplift repo
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.
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.
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.
A novel way of seeing content
A hierarchical multiscale model for inferring transcription factor binding from chromatin accessibility data.
De novo mutation recurrence significance testing
use biopython entrez to pull useful data from ncbi (i.e. pubmed metadata)
repository for analysis of recessive genes
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.
Significance testing for recurrence of de novo regulatory mutations.
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.
High-level API for storing and querying sequence variant data
A declarative, efficient, and flexible JavaScript library for building user interfaces.
🖖 Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.
TypeScript is a superset of JavaScript that compiles to clean JavaScript output.
An Open Source Machine Learning Framework for Everyone
The Web framework for perfectionists with deadlines.
A PHP framework for web artisans
Bring data to life with SVG, Canvas and HTML. 📊📈🎉
JavaScript (JS) is a lightweight interpreted programming language with first-class functions.
Some thing interesting about web. New door for the world.
A server is a program made to process requests and deliver data to clients.
Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.
Some thing interesting about visualization, use data art
Some thing interesting about game, make everyone happy.
We are working to build community through open source technology. NB: members must have two-factor auth.
Open source projects and samples from Microsoft.
Google ❤️ Open Source for everyone.
Alibaba Open Source for everyone
Data-Driven Documents codes.
China tencent open source team.