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@WGLab

Wang Genomics Lab

We develop software tools for genome analysis

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  1. doc-ANNOVAR doc-ANNOVAR Public

    Documentation for the ANNOVAR software

    247 428

  2. InterVar InterVar Public

    A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline

    Python 206 94

  3. dragonstar2019 dragonstar2019 Public

    136 95

  4. NanoCaller NanoCaller Public

    Variant calling tool for long-read sequencing data

    Python 117 8

  5. DeepMod DeepMod Public

    DeepMod: a deep-learning tool for genomic-scale, strand-sensitive and single-nucleotide based detection of DNA modifications

    Python 104 35

  6. PennCNV PennCNV Public

    Copy number vaiation detection from SNP arrays

    C 96 54

Repositories

Showing 10 of 99 repositories
  • SCOTCH Public

    Single-Cell Omics for Transcriptome CHaracterization (SCOTCH): isoform-level characterization of gene expression through long-read single-cell RNA sequencing

    WGLab/SCOTCH’s past year of commit activity
    Python 19 MIT 3 4 0 Updated Mar 5, 2026
  • ContextSV Public

    An alignment-based, generalized structural variant caller for long-read sequencing/mapping data

    WGLab/ContextSV’s past year of commit activity
    C++ 2 MIT 0 5 0 Updated Mar 5, 2026
  • PhenoSS Public

    Phenotype semantic similarity-based approach for rare disease prediction and patient clustering

    WGLab/PhenoSS’s past year of commit activity
    Jupyter Notebook 1 MIT 0 0 0 Updated Mar 5, 2026
  • 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.

    WGLab/RareDAI’s past year of commit activity
    Python 0 MIT 0 0 0 Updated Mar 5, 2026
  • PipeVar Public

    Pipeline to call phenotype variant

    WGLab/PipeVar’s past year of commit activity
    Nextflow 0 0 0 0 Updated Mar 2, 2026
  • novamod Public

    ML project for de novo anomaly-detection-based modification discovery

    WGLab/novamod’s past year of commit activity
    Jupyter Notebook 1 0 0 0 Updated Mar 2, 2026
  • GenoSnap Public

    Fast and useful helper scripts for analysis of genotype data in VCF file

    WGLab/GenoSnap’s past year of commit activity
    Python 1 0 0 0 Updated Feb 26, 2026
  • CoT-RAG-LLM-Gene-Prioritization-Disease-Diagnosis Public
    WGLab/CoT-RAG-LLM-Gene-Prioritization-Disease-Diagnosis’s past year of commit activity
    Python 4 MIT 0 0 0 Updated Feb 23, 2026
  • MINT-LLM Public
    WGLab/MINT-LLM’s past year of commit activity
    Python 1 MIT 0 0 0 Updated Feb 23, 2026
  • PhenoSnap Public

    Rapid extraction of phenotypes and medical entities into Phenopackets from natural texts

    WGLab/PhenoSnap’s past year of commit activity
    Python 1 0 0 0 Updated Feb 21, 2026
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