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1. monarch-initiative/SvAnna monarch-initiative/SvAnna Public

   Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

   Java 33 4

2. TheJacksonLaboratory/LIRICAL TheJacksonLaboratory/LIRICAL Public

   LIkelihood Ratio Interpretation of Clinical AbnormaLities

   Java 24 11

3. monarch-initiative/Squirls monarch-initiative/Squirls Public

   Interpretable prioritization of splice variants in diagnostic next-generation sequencing

   Java 15 4

4. phenopackets/phenopacket-tools phenopackets/phenopacket-tools Public

   An app and library for building, conversion, and validation of GA4GH Phenopackets.

   Java 13 5

5. hpo-toolkit hpo-toolkit Public

   A toolkit for working with Human Phenotype Ontology in Python

   Python 5