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    • SCOTCH

      Public
      Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
      Python
      21720Updated Dec 27, 2025Dec 27, 2025
    • Webpage for Phenotype Disease Image Database
      HTML
      0000Updated Dec 16, 2025Dec 16, 2025
    • MARDD

      Public
      Python
      0200Updated Dec 9, 2025Dec 9, 2025
    • Jupyter Notebook
      0000Updated Dec 5, 2025Dec 5, 2025
    • PDIDB

      Public
      Phenotype Diseased Image Synthesis Database
      Python
      0100Updated Dec 3, 2025Dec 3, 2025
    • PhenCards

      Public
      Development of phencards.org web server for one stop shop of phenotype information
      HTML
      14111Updated Dec 2, 2025Dec 2, 2025
    • PhenoSS

      Public
      0100Updated Nov 22, 2025Nov 22, 2025
    • PhenoGPT2

      Public
      PhenoGPT2 is an advanced phenotype recognition model, leveraging the robust capabilities of large language models.
      Python
      1550Updated Nov 7, 2025Nov 7, 2025
    • PubMind

      Public
      PubMind is a large language model (LLM)-assisted framework for Publication Mutation and information Discovery, designed to extract variant–disease–pathogenicity relationships directly from biomedical literature.
      Jupyter Notebook
      1300Updated Nov 2, 2025Nov 2, 2025
    • PipeVar

      Public
      Pipeline to call phenotype variant
      Nextflow
      0000Updated Oct 13, 2025Oct 13, 2025
    • ContextSV

      Public
      An alignment-based, generalized structural variant caller for long-read sequencing/mapping data
      C++
      0250Updated Sep 20, 2025Sep 20, 2025
    • C++
      32850Updated Sep 11, 2025Sep 11, 2025
    • NanoRepeat: fast and accurate analysis of Short Tandem Repeats (STRs) from Oxford Nanopore sequencing data
      Python
      32060Updated Sep 10, 2025Sep 10, 2025
    • RareDAI

      Public
      RareDAI is an advanced LLM technique, fine-tuned on LLama 3.1 models, designed to support genetic counselors and patients in choosing the most appropriate molecular genetic tests, such as gene panels or WES/WGS, through clear and comprehensive explanations.
      Python
      0000Updated Aug 27, 2025Aug 27, 2025
    • RankVar

      Public
      Python
      0300Updated Aug 26, 2025Aug 26, 2025
    • MultiSHAP

      Public
      Python
      0400Updated Aug 1, 2025Aug 1, 2025
    • Documentation for the ANNOVAR software
      4212461350Updated Jul 30, 2025Jul 30, 2025
    • Materials for Quantitative Genomics 2025 workshop
      3300Updated Jul 7, 2025Jul 7, 2025
    • mutformer

      Public
      A transformer model to predict pathogenic mutations
      Jupyter Notebook
      21210Updated Jun 25, 2025Jun 25, 2025
    • The Gene Fusion (GF) Detection Pipeline is comprehensive bioinformatics workflow designed for Oxford Nanopore long-read sequencing data.
      Jupyter Notebook
      0200Updated Jun 11, 2025Jun 11, 2025
    • Jupyter Notebook
      0000Updated May 28, 2025May 28, 2025
    • MINT-LLM

      Public
      Python
      0000Updated May 19, 2025May 19, 2025
    • LIQA2

      Public
      Python
      0020Updated Apr 8, 2025Apr 8, 2025
    • LIQA

      Public
      Long-read Isoform Quantification and Analysis
      Python
      133800Updated Mar 25, 2025Mar 25, 2025
    • 0300Updated Mar 23, 2025Mar 23, 2025
    • Variant calling tool for long-read sequencing data
      Python
      8116330Updated Mar 19, 2025Mar 19, 2025
    • PhenoGPT

      Public
      Jupyter Notebook
      82940Updated Mar 15, 2025Mar 15, 2025
    • InFuse

      Public
      Software for detecting gene fusions and exon-skippings from long read sequencing
      Python
      0000Updated Mar 12, 2025Mar 12, 2025
    • DeepMod2

      Public
      DNA 5mC methylation detection from Dorado or Guppy basecalled Oxford Nanopore reads
      Jupyter Notebook
      559150Updated Mar 5, 2025Mar 5, 2025
    • CancerVar

      Public
      Clinical interpretation of somatic mutations in cancer
      Python
      1550210Updated Feb 20, 2025Feb 20, 2025