Pinned Repositories
compbio-toolkit
A haphazard collection of useful scripts that I've written over the years
diff-diagnosis
Improving phenotips' differential diagnosis tool
patient-similarity
Phenotype and genotype-based patient similarity
silva
SilVA: Silent Variant Analysis using random forests
mme-apis
Documentation for the MatchmakerExchange APIs
pedigree
Repository for the family history/pedigree project
reference-server
A simple Flask server that implements the Matchmaker Exchange API
open-pedigree
A free and open-source pedigree tool by PhenoTips®
phenotips
The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients with possible genetic disorders through an easy-to-use Web interface
vg
tools for working with genome variation graphs
buske's Repositories
buske/patient-similarity
Phenotype and genotype-based patient similarity
buske/silva
SilVA: Silent Variant Analysis using random forests
buske/compbio-toolkit
A haphazard collection of useful scripts that I've written over the years
buske/diff-diagnosis
Improving phenotips' differential diagnosis tool
buske/matchingsim
Creating a testing framework and evaluation techniques for variant prioritization algorithms
buske/variant-subscription-service
Subscribe to important updates on genomic variants of interest, such as changes in ClinVar classification
buske/ga4gh-discovery-metadata
Structured metadata for describing entities for use with GA4GH Discovery APIs.
buske/gcsa2
BWT-based index for graphs
buske/jannovar
Java framework for annotating VCF files with gene/transcript-based annotations
buske/padlock-pipeline
Analysis pipeline for DNA methylation profiling using padlock bisulfite sequencing, based on the Bismark tool.
buske/phenopacket-schema
Repository for the inlined phenopacket schema
buske/secure-innerproduct
computing inner product of a server's bit vector and a user's bit vector in privacy-preserving manner