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Phillip Richmond's Projects

ald_modifier_project icon ald_modifier_project

This repository houses scripts for analysis and plotting of the ALD Modifier Project headed by Clara van Karnebeek

annotatevariants icon annotatevariants

This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions for software installs.

annotsv icon annotsv

Annotation and Ranking of Structural Variation

arcsv icon arcsv

Complex structural variant detection from WGS data

arrayfromwgs icon arrayfromwgs

This repository contains code and instructions for setting up the ArrayFromWGS analysis, which extracts read-depth and genotype information from curated genomic probe sets.

bioinformatics-tools icon bioinformatics-tools

This is a toolbox for useful scripts, methods, tools, and programs that I've written and am kindly making available for other people to use.

buildinhousedb icon buildinhousedb

This set of scripts will build an in-house database once you deposit VCF files into a directory.

cayman icon cayman

Cayman is a Jekyll theme for GitHub Pages

choosealicense.com icon choosealicense.com

A site to provide non-judgmental guidance on choosing a license for your open source project

computecanada_eot icon computecanada_eot

This is a repository for the Education, Outreach and Training tutorials offered by Compute Canada

genomeanalysismodule icon genomeanalysismodule

Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees in the UBC MSc Genetic Counselling Training Program, as they embark on a journey to learn about analyzing genomes.

haplotypingutils icon haplotypingutils

Some scripts and utilities for haplotyping analysis collaboration with Hayden lab.

markdown-here icon markdown-here

Google Chrome, Firefox, and Thunderbird extension that lets you write email in Markdown and render it before sending.

old-website.io icon old-website.io

This is the website for Phillip A Richmond. I guess to keep some of my stuff in one spot?

rgdmodule icon rgdmodule

An interactive website utilizing synthetic rare genetic disease scenarios to teach about the process of variant/gene prioritization in rare disease diagnosis.

stix-docker icon stix-docker

Dockerfile for Ryan Layer's stix sv annotator + associated tools

varsim icon varsim

VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications

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