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1. exomiser/Exomiser exomiser/Exomiser Public

   A Tool to Annotate and Prioritize Exome Variants

   Java 202 55

2. normalise-allele normalise-allele Public

   A standalone library for minimising alleles to VCF standard

   Java

3. owlsim-v3 owlsim-v3 Public

   Forked from monarch-initiative/owlsim-v3

   Ontology Based Profile Matching

   JavaScript

4. phenopacket-reference-implementation phenopacket-reference-implementation Public

   Forked from phenopackets/phenopacket-reference-implementation

   Reference java implementation for phenopackets

   Java

5. vmc-kotlin vmc-kotlin Public

   A kotlin flavoured VMC implementation

   Kotlin

6. acmg acmg Public

   A simple CLI for decyphering ACMG codes and scores

   Rust