A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
☆207May 28, 2023Updated 2 years ago
Alternatives and similar repositories for InterVar
Users that are interested in InterVar are comparing it to the libraries listed below
Sorting:
- Characterization of Germline variants☆100Mar 15, 2022Updated 4 years ago
- phenotype-based prioritization of candidate genes for human diseases☆65Jan 25, 2023Updated 3 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆25Sep 30, 2025Updated 5 months ago
- Personal Cancer Genome Reporter (PCGR)☆274Updated this week
- Simplify snpEff annotations for interesting cases☆22Feb 18, 2019Updated 7 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆540Mar 4, 2026Updated 2 weeks ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- Phenotype driven gene prioritization for HPO☆52Jul 26, 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
- HGVS variant name parsing and generation☆176Jun 14, 2023Updated 2 years ago
- A Tool to Annotate and Prioritize Exome Variants☆247Feb 28, 2026Updated 2 weeks ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 10 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- a lightweight bam file depth statistical tool☆161Sep 13, 2024Updated last year
- microsatellite instability detection using tumor only or paired tumor-normal data☆132Jan 6, 2021Updated 5 years ago
- ☆43Feb 9, 2024Updated 2 years ago
- web-based analysis tool for rare disease genomics☆202Updated this week
- ☆36Mar 16, 2021Updated 5 years ago
- Annotation and Ranking of Structural Variation☆288Updated this week
- Strelka2 germline and somatic small variant caller☆391Dec 29, 2021Updated 4 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- HGVS variant nomenclature checker☆98May 1, 2023Updated 2 years ago
- Structural variant and indel caller for mapped sequencing data☆459Oct 11, 2025Updated 5 months ago
- lumpy: a general probabilistic framework for structural variant discovery☆338Feb 22, 2026Updated 3 weeks ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Jun 22, 2022Updated 3 years ago
- Microsatellite Instability (MSI) detection using high-throughput sequencing data.☆115Apr 2, 2025Updated 11 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆398Aug 30, 2025Updated 6 months ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆88Updated this week
- automatic update Clinvar db for ANNOVAR☆10Mar 9, 2026Updated last week
- MyVariant.info: A BioThings API for human variant annotations☆98Sep 10, 2025Updated 6 months ago
- a lightweight db framework for exploring genetic variation.☆326Apr 28, 2020Updated 5 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated last month
- Clinical interpretation of somatic mutations in cancer☆50Feb 20, 2025Updated last year
- genetic variant expressions, annotation, and filtering for great good.☆274Dec 15, 2025Updated 3 months ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆65Mar 9, 2026Updated last week
- The nimble & robust variant annotator☆191Apr 25, 2024Updated last year