exomiser

Here are 3 public repositories matching this topic...

genome ngs next-generation-sequencing variant-annotations hpo exome whole-exome-sequencing whole-genome-sequencing phive hg19 phenix exomiser genomiser remm hiphive exomewalker b37

Homebrew tap repository for the Exomiser organisation

homebrew homebrew-tap exomiser

Research prototype for phenotype extraction, Exomiser ranking, biomedical evidence, and AI-assisted rare-disease review.

bioinformatics ai genomics hpo variant-analysis exomiser rare-disease streamlit llm

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