StrVCTVRE, a structural variant classifier for exonic deletions and duplications
☆19Dec 6, 2023Updated 2 years ago
Alternatives and similar repositories for StrVCTVRE
Users that are interested in StrVCTVRE are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- ☆13Jul 17, 2024Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 3 years ago
- Workflow Description Language (WDL) scripts for common vg workflows☆25Updated this week
- structural variant database software☆49Jul 31, 2026Updated last week
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆37Sep 13, 2023Updated 2 years ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆49Dec 6, 2024Updated last year
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- Burden testing against public controls☆51Feb 27, 2024Updated 2 years ago
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 4 years ago
- NHC: A computational approach to detect physiological homogeneity in the midst of genetic heterogeneity☆12Feb 25, 2026Updated 5 months ago
- ☆52Jun 25, 2024Updated 2 years ago
- Jasmine: SV Merging Across Samples☆260Dec 20, 2024Updated last year
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆31Sep 19, 2022Updated 3 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.
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Nov 18, 2025Updated 8 months ago
- CADD-SV – a framework to score the effect of structural variants☆22Jul 21, 2026Updated 2 weeks ago
- A loose collection of scripts and utilities for processing and analyzing the Goat reference genome assembly☆11Feb 28, 2017Updated 9 years ago
- Correcting errors in noisy long reads using variation graphs☆53Nov 17, 2022Updated 3 years ago
- a hidden Markov model to infer simple repeats from genome sequences☆38Feb 19, 2021Updated 5 years ago
- Pipeline code for creating a fully haplotype-resolved assembly from a combination of PacBio/ONT long reads and Illumina Strand-seq data☆16Apr 2, 2024Updated 2 years ago
- A tool for estimating repeat sizes☆217Jan 30, 2024Updated 2 years ago
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 5 years ago
- A VCF comparison engine for structual variant benchmarking☆24Sep 26, 2025Updated 10 months ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆40May 19, 2026Updated 2 months ago
- ☆20Nov 30, 2023Updated 2 years ago
- Determining tandem repeat lengths using raw nanopore signals.☆15Sep 11, 2023Updated 2 years ago
- A filter algorithm with program to filter an alignment or mapping file☆12May 15, 2025Updated last year
- Structural variant toolkit for VCFs☆421May 22, 2026Updated 2 months ago
- Curated list of resources for variant prioritization☆15Nov 18, 2025Updated 8 months ago
- Sample Contamination Estimate from VCF☆21Nov 6, 2024Updated last year
- ☆36Mar 2, 2021Updated 5 years ago
- Structural variant caller☆54Dec 8, 2021Updated 4 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.
- Classifier of pathogenic non-coding variants in Mendelian diseases☆11Feb 6, 2020Updated 6 years ago
- (WIP) best-practices workflow for rare disease☆64Jul 1, 2024Updated 2 years ago
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆34Updated this week
- Toolkit for calling structural variants using short or long reads☆115Jul 14, 2026Updated 3 weeks ago
- SV genotyping with long reads☆40Jul 3, 2023Updated 3 years ago
- Plot structural variant signals from many BAMs and CRAMs☆573Jul 13, 2024Updated 2 years ago
- ☆42May 22, 2024Updated 2 years ago