Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
☆42Nov 3, 2026Updated this week
Alternatives and similar repositories for SvAnna
Users that are interested in SvAnna are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Functional-trained variant effect predictor☆19Aug 27, 2026Updated 2 months ago
- SV calling for diploid assemblies☆32Mar 22, 2024Updated 2 years ago
- Structural Variants Assessment Based on Haplotype-resolved Assemblies☆22Apr 28, 2023Updated 3 years ago
- MethPhaser: methylation-based haplotype phasing of human genomes☆58Mar 5, 2025Updated last year
- Transcript specific RNA splicing events lookup☆10Jun 22, 2026Updated 4 months ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- HitSV: Maximizing discovery of structural variants across sequencing technologies☆47Oct 28, 2026Updated last week
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆31Sep 19, 2022Updated 4 years ago
- VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing☆10Sep 8, 2026Updated last month
- A long-read analysis toolbox for cancer and population genomics☆23Jul 1, 2025Updated last year
- CNV detection tool for WES data☆13Aug 21, 2024Updated 2 years ago
- 3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing☆11Nov 11, 2024Updated last year
- Structural Variants ANnotator (SVAN)☆18Oct 16, 2026Updated 3 weeks ago
- ☆135Nov 1, 2026Updated last week
- A tool for somatic structural variant calling using long reads☆181Updated this week
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Pipeline to convert a haploid assembly into diploid☆114Jan 23, 2025Updated last year
- Annotation and Ranking of Structural Variation☆310Aug 11, 2026Updated 2 months ago
- an interactive visualization and interpretation framework of reference-projected pangenome graphs☆42Feb 15, 2025Updated last year
- PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.☆18Feb 11, 2025Updated last year
- ☆24Feb 22, 2023Updated 3 years ago
- Toolkit for calling structural variants using short or long reads☆120Oct 30, 2026Updated last week
- Structural variant caller for real-time long-read sequencing data☆64Dec 1, 2022Updated 3 years ago
- ☆32Mar 1, 2026Updated 8 months ago
- Short Tandem Repeat disease loci resource☆30Updated this week
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- Structural variant (SV) analysis tools☆42Jul 1, 2024Updated 2 years ago
- Long read based human genomic structural variation detection with cuteSV☆296Oct 12, 2026Updated 3 weeks ago
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 6 years ago
- CADD-SV – a framework to score the effect of structural variants☆23Oct 22, 2026Updated 2 weeks ago
- Tumor-normal variant calling workflow using HiFi reads☆31Mar 4, 2026Updated 8 months ago
- Phased assembly variant caller☆147Dec 4, 2024Updated last year
- A Mendelian approach to variant effect prediction built in keras☆22Aug 22, 2026Updated 2 months ago
- A simple script to create a customizable html file from an AnnotSV output.☆23Apr 20, 2026Updated 6 months ago
- ☆37Aug 18, 2024Updated 2 years ago
- Simple, predictable pricing with DigitalOcean hosting • AdAlways know what you'll pay with monthly caps and flat pricing. Enterprise-grade infrastructure trusted by 600k+ customers.
- Structural variant caller for low-depth long-read sequencing data☆30Jan 6, 2025Updated last year
- Detecting genome structural variants with deep learning in single molecule sequencing☆118Apr 9, 2025Updated last year
- ☆52Jun 27, 2026Updated 4 months ago
- A deletion and duplication caller from NGS paired-end data.☆14Aug 22, 2025Updated last year
- SV detection tool for nanopore sequence reads☆99Mar 25, 2026Updated 7 months ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆24Feb 28, 2023Updated 3 years ago
- A customizable genetic variants file format converter.☆11May 22, 2026Updated 5 months ago