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    • C++
      32140Updated Jul 17, 2025Jul 17, 2025
    • ContextSV

      Public
      An alignment-based, generalized structural variant caller for long-read sequencing/mapping data
      C++
      0250Updated Jul 9, 2025Jul 9, 2025
    • SCOTCH

      Public
      Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing
      Python
      21320Updated Jul 7, 2025Jul 7, 2025
    • Materials for Quantitative Genomics 2025 workshop
      3200Updated Jul 7, 2025Jul 7, 2025
    • Documentation for the ANNOVAR software
      4032431330Updated Jul 3, 2025Jul 3, 2025
    • mutformer

      Public
      A transformer model to predict pathogenic mutations
      Jupyter Notebook
      21210Updated Jun 25, 2025Jun 25, 2025
    • PhenCards

      Public
      Development of phencards.org web server for one stop shop of phenotype information
      HTML
      14111Updated Jun 12, 2025Jun 12, 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
    • RankVar

      Public
      Python
      0000Updated Mar 25, 2025Mar 25, 2025
    • LIQA

      Public
      Long-read Isoform Quantification and Analysis
      Python
      133800Updated Mar 25, 2025Mar 25, 2025
    • 0200Updated Mar 23, 2025Mar 23, 2025
    • Variant calling tool for long-read sequencing data
      Python
      8111330Updated Mar 19, 2025Mar 19, 2025
    • PhenoGPT

      Public
      Jupyter Notebook
      82440Updated 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
      451150Updated Mar 5, 2025Mar 5, 2025
    • CancerVar

      Public
      Clinical interpretation of somatic mutations in cancer
      Python
      1447210Updated Feb 20, 2025Feb 20, 2025
    • LinkedSV

      Public
      C
      920150Updated Feb 18, 2025Feb 18, 2025
    • PhenoSV

      Public
      PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
      Python
      51640Updated Feb 11, 2025Feb 11, 2025
    • PhenoSS

      Public
      0100Updated Feb 10, 2025Feb 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 Jan 29, 2025Jan 29, 2025
    • NanoRepeat: fast and accurate analysis of Short Tandem Repeats (STRs) from Oxford Nanopore sequencing data
      Python
      11850Updated Dec 6, 2024Dec 6, 2024
    • AmpBinner

      Public
      A barcode demultiplexer for Oxford Nanopore long-read amplicon sequencing data
      Python
      21040Updated Nov 27, 2024Nov 27, 2024
    • LlamaDx

      Public
      LlamaDx is an advanced LLM technique, pretrained on LLama 3.2 models, designed to providing some predictions and medical knowledges for doctors, nurses and patients through clear and comprehensive explanations. It is an AI chatbot where the users can ask question and provide relevant information for disease diagnosis.
      Python
      0000Updated Nov 24, 2024Nov 24, 2024
    • PhenoGPT2

      Public
      PhenoGPT2 is an advanced phenotype recognition model, leveraging the robust capabilities of large language models.
      Python
      1100Updated Oct 30, 2024Oct 30, 2024
    • GA4GH Phenopacket to LLM prompt
      Java
      2000Updated Sep 15, 2024Sep 15, 2024
    • Jupyter Notebook
      2210Updated Aug 12, 2024Aug 12, 2024
    • Bioinformatics pipeline for the identification and quantification of active, full-length Long INterspersed Elements (LINEs)
      Shell
      0010Updated Aug 7, 2024Aug 7, 2024
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