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  1. monarch-initiative/curategpt monarch-initiative/curategpt Public

    LLM-driven curation assist tool

    Jupyter Notebook 70 12

  2. ELDER ELDER Public

    LLM embeddings for rare disease diagnostics

    Python

  3. monarch-initiative/semsimian monarch-initiative/semsimian Public

    Simple rust implementation of semantic similarity

    Jupyter Notebook 9 5

  4. wurmlab/sequenceserver wurmlab/sequenceserver Public

    Intuitive graphical web interface for running BLAST bioinformatics tool (i.e. have your own custom NCBI BLAST site!)

    JavaScript 274 114

  5. exomiser/Exomiser exomiser/Exomiser Public

    A Tool to Annotate and Prioritize Exome Variants

    Java 202 55

  6. aaronwtr/geneius aaronwtr/geneius Public

    Geneius is a powerful command-line tool leveraging Anthropic AI's Claude API to help you search through scientific literature and extract evidence for disease-gene associations.

    Python 4