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
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 2 months ago
- ☆13Jul 17, 2024Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Sep 13, 2023Updated 2 years ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- structural variant database software☆48Apr 21, 2026Updated last week
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 4 years ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆48Dec 6, 2024Updated last year
- NHC: A computational approach to detect physiological homogeneity in the midst of genetic heterogeneity☆12Feb 25, 2026Updated 2 months ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- ☆52Jun 25, 2024Updated last year
- Burden testing against public controls☆50Feb 27, 2024Updated 2 years ago
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆32Sep 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.
- Jasmine: SV Merging Across Samples☆250Dec 20, 2024Updated last year
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆30Apr 21, 2026Updated last week
- Correcting errors in noisy long reads using variation graphs☆51Nov 17, 2022Updated 3 years ago
- A loose collection of scripts and utilities for processing and analyzing the Goat reference genome assembly☆11Feb 28, 2017Updated 9 years ago
- a hidden Markov model to infer simple repeats from genome sequences☆37Feb 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
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- A tool for estimating repeat sizes☆208Jan 30, 2024Updated 2 years ago
- Classifier of pathogenic non-coding variants in Mendelian diseases☆11Feb 6, 2020Updated 6 years ago
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- Workflow Description Language (WDL) scripts for common vg workflows☆24Dec 15, 2025Updated 4 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Nov 28, 2025Updated 5 months ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Nov 18, 2025Updated 5 months ago
- Determining tandem repeat lengths using raw nanopore signals.☆15Sep 11, 2023Updated 2 years ago
- A VCF comparison engine for structual variant benchmarking☆24Sep 26, 2025Updated 7 months ago
- ☆20Nov 30, 2023Updated 2 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- A filter algorithm with program to filter an alignment or mapping file☆12May 15, 2025Updated 11 months ago
- Structural variant toolkit for VCFs☆406Mar 21, 2026Updated last month
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- Structural variant caller☆55Dec 8, 2021Updated 4 years ago
- ☆39May 22, 2024Updated last year
- ☆35Mar 2, 2021Updated 5 years ago
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- Toolkit for calling structural variants using short or long reads☆115Updated this week
- SV genotyping with long reads☆40Jul 3, 2023Updated 2 years ago