zwdzwd / transvarView external linksLinks
TransVar - multiway annotator for precision medicine
☆126Apr 19, 2023Updated 2 years ago
Alternatives and similar repositories for transvar
Users that are interested in transvar are comparing it to the libraries listed below
Sorting:
- HGVS variant name parsing and generation☆176Jun 14, 2023Updated 2 years ago
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- VarDict☆201Jan 5, 2024Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆204May 4, 2021Updated 4 years ago
- ☆36Mar 16, 2021Updated 4 years ago
- This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file…☆131Feb 13, 2020Updated 6 years ago
- Python library to parse, format, validate, normalize, and map sequence variants according to HGVS Nomenclature (https://hgvs-nomenclature…☆288Updated this week
- Personal Cancer Genome Reporter (PCGR)☆274Oct 7, 2025Updated 4 months ago
- Microsatellite instability (MSI) detection for tumor only data.☆113Apr 23, 2024Updated last year
- tools for adding mutations to existing .bam files, used for testing mutation callers☆247Oct 18, 2024Updated last year
- Microsatellite instability (MSI) detection for cfDNA samples.☆20Feb 20, 2021Updated 4 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Mar 29, 2021Updated 4 years ago
- Algorithm to implement Fraction and Copy number Estimate from Tumor/normal Sequencing.☆158Jan 29, 2026Updated 2 weeks ago
- ☆14Dec 13, 2023Updated 2 years ago
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Dec 31, 2025Updated last month
- VarDict Java port☆138Jan 5, 2024Updated 2 years ago
- UVC, a very accurate small-variant caller (https://doi.org/10.1093/bib/bbab458)☆14May 18, 2025Updated 8 months ago
- Finder of Somatic Fusion Genes in RNA-seq data☆148Sep 9, 2025Updated 5 months ago
- Concordance and contamination estimator for tumor–normal pairs☆59Oct 22, 2024Updated last year
- Tools for working with genomic and high throughput sequencing data.☆353Jan 26, 2026Updated 2 weeks ago
- Overall management and deployment of the BRCA Exchange web portal and pipeline scripts☆27Jan 6, 2026Updated last month
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆279May 21, 2025Updated 8 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- Read visualizer for structural variants☆84Aug 18, 2018Updated 7 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆115Apr 2, 2025Updated 10 months ago
- Detect and visualize target mutations by scanning FastQ files directly☆157Feb 10, 2022Updated 4 years ago
- Somatic copy variant caller (CNV) for next generation sequencing☆75Sep 12, 2024Updated last year
- DeTiN is designed to measure tumor-in-normal contamination and improve somatic variant detection sensitivity when using a contaminated ma…☆53May 20, 2022Updated 3 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- a lightweight bam file depth statistical tool☆161Sep 13, 2024Updated last year
- Fast and accurate gene fusion detection from RNA-Seq data☆259Sep 21, 2025Updated 4 months ago
- Phenotype driven gene prioritization for HPO☆51Jul 26, 2021Updated 4 years ago
- ☆43Feb 9, 2024Updated 2 years ago
- Copy number variant detection from targeted DNA sequencing☆601Feb 7, 2026Updated last week
- Open workflow definitions for genomic analysis from MGI at WUSM.☆104Jun 23, 2025Updated 7 months ago
- Detect and visualize microsatellite instability(MSI) from NGS data☆32Jun 4, 2019Updated 6 years ago
- Strelka2 germline and somatic small variant caller☆389Dec 29, 2021Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago