structural variant database software
☆49May 28, 2026Updated last month
Alternatives and similar repositories for SVDB
Users that are interested in SVDB are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Structural variant pipeline☆18Jun 25, 2020Updated 6 years ago
- ☆19Apr 24, 2026Updated 2 months ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated last year
- Whole Genome Sequenceing Structural Variation Pipelines☆18Apr 4, 2019Updated 7 years ago
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 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.
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Jun 25, 2026Updated last week
- TIDDIT - structural variant calling☆80Mar 22, 2026Updated 3 months ago
- (WIP) best-practices workflow for rare disease☆64Jul 1, 2024Updated 2 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Apr 22, 2026Updated 2 months ago
- A nextflow pipeline for calling exome CNVs☆14Jun 22, 2026Updated last week
- ☆12Apr 18, 2022Updated 4 years ago
- ☆44Sep 10, 2024Updated last year
- Structural variant VCF annotation, duplicate removal and comparison☆38Oct 14, 2025Updated 8 months ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Updated this week
- ☆36Mar 2, 2021Updated 5 years ago
- A simple observation count database☆11Jan 13, 2026Updated 5 months ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 7 months ago
- Call and score variants from WGS/WES of rare disease patients.☆119Updated this week
- reference implementation of GA4GH WGS Quality Control Standards☆11Nov 25, 2025Updated 7 months ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆18Apr 1, 2026Updated 3 months ago
- Deep learning-based structural variant filtering method☆40Nov 19, 2023Updated 2 years ago
- ☆24Feb 22, 2023Updated 3 years ago
- End-to-end encrypted cloud storage - Proton Drive • AdSpecial offer: 40% Off Yearly / 80% Off First Month. Protect your most important files, photos, and documents from prying eyes.
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆37Sep 13, 2023Updated 2 years ago
- vembrane filters, sorts, and transforms VCF records using python expressions☆70Jun 23, 2026Updated last week
- using all the bits for echt rapid variant annotation and filtering☆162Apr 30, 2026Updated 2 months ago
- Config and setup to run nf-core/raredisease pipeline☆10Sep 11, 2025Updated 9 months ago
- igv.js standalone page generator and automatic configuration to view bam/cram/vcf/bed. "working in under 1 minute"☆132Oct 14, 2025Updated 8 months ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18May 4, 2026Updated 2 months ago
- Integrative analysis of complex structural variants☆22Sep 7, 2020Updated 5 years ago
- ☆11Jul 13, 2018Updated 7 years ago
- IndexTools is a toolkit for extremely fast NGS analysis based on index files.☆17Aug 19, 2022Updated 3 years ago
- End-to-end encrypted email - Proton Mail • AdSpecial offer: 40% Off Yearly / 80% Off First Month. All Proton services are open source and independently audited for security.
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆60Apr 27, 2026Updated 2 months ago
- ⛰ covtobed | Convert the coverage track from a BAM file into a BED file☆44Nov 6, 2025Updated 7 months ago
- Structural variant benchmark☆24Mar 4, 2025Updated last year
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆29Sep 21, 2024Updated last year
- A framework to annotate SVs with previous known SVs (vcf file) and or with genomic features (gff and or bed files)☆13Mar 12, 2018Updated 8 years ago
- VCF visualization interface☆178Jun 25, 2026Updated last week
- Sample Contamination Estimate from VCF☆21Nov 6, 2024Updated last year