Pinned Repositories
Exomiser
A Tool to Annotate and Prioritize Exome Variants
acmg
A simple CLI for decyphering ACMG codes and scores
billion-row-challenge
Code experiments related to 1brc
normalise-allele
A standalone library for minimising alleles to VCF standard
owlsim-v3
Ontology Based Profile Matching
phenopacket-reference-implementation
Reference java implementation for phenopackets
vickers
A Rust implementation of variantkey
vmc-kotlin
A kotlin flavoured VMC implementation
julesjacobsen's Repositories
julesjacobsen/vickers
A Rust implementation of variantkey
julesjacobsen/acmg
A simple CLI for decyphering ACMG codes and scores
julesjacobsen/billion-row-challenge
Code experiments related to 1brc
julesjacobsen/biohackathon-projects-2021
For BioHackathon Europe 2021.
julesjacobsen/CuratorModel
A journal-centric model of UniProt for linking journal-derived data to protein sequences.
julesjacobsen/curie-util
Java utility library to translate CURIEs to IRIs and vice-versa.
julesjacobsen/normalise-allele
A standalone library for minimising alleles to VCF standard
julesjacobsen/owlsim-v3
Ontology Based Profile Matching
julesjacobsen/phenopacket-reference-implementation
Reference java implementation for phenopackets
julesjacobsen/vmc-kotlin
A kotlin flavoured VMC implementation
julesjacobsen/envoy
Cloud-native high-performance edge/middle/service proxy
julesjacobsen/exomiser-test-nf
julesjacobsen/exomiser_allele_store
Experimental project for parsing and sorting large numbers of alleles.
julesjacobsen/gregor
A refactor of Jannovar's mendel and pedigree packages
julesjacobsen/hello-iris
julesjacobsen/jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
julesjacobsen/linkml-java-model
A Java implementation of the LinkML model
julesjacobsen/matcher
julesjacobsen/miabis
julesjacobsen/mybiocaddie
Template for generating your own mycaddie metadata repo
julesjacobsen/nextflow-test
julesjacobsen/obographs
Basic and Advanced OBO Graphs: specification and reference implementation
julesjacobsen/pedigree
Repository for the family history/pedigree project
julesjacobsen/PhenoDigm2
A Java library for accessing PhenoDigm data
julesjacobsen/phenogenomics
julesjacobsen/phenopacket-tools
Multimodule Java library/app that implements the "streamlined builder" code, v1 to v2 converter app
julesjacobsen/ristretto
Compressed Sparse Row (CSR) graph implementation for Ontologies
julesjacobsen/smhasher
Automatically exported from code.google.com/p/smhasher
julesjacobsen/variantkey
Numerical Encoding for Human Genetic Variants
julesjacobsen/vas
a simple variant annotation server