CADD-SV – a framework to score the effect of structural variants
☆18Feb 11, 2026Updated last month
Alternatives and similar repositories for CADD-SV
Users that are interested in CADD-SV are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Mar 16, 2026Updated last week
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 10 months ago
- R package: determining cutoff values from bimodal data☆11Mar 17, 2024Updated 2 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- Short reads aligner for NIPT/CNV☆16Oct 10, 2018Updated 7 years ago
- ☆27Mar 2, 2026Updated 3 weeks ago
- Copy number estimation and variant calling for duplicated genes using WGS.☆32Feb 24, 2026Updated last month
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Mar 20, 2023Updated 3 years ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last month
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 8 years ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Nov 9, 2025Updated 4 months ago
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆21Jan 4, 2026Updated 2 months ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Dec 18, 2025Updated 3 months 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 last year
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Mar 16, 2026Updated last week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 5 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Sep 16, 2025Updated 6 months ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆28Jul 26, 2024Updated last year
- mgikit is a collection of tools used to demultiplex fastq files and generate demultiplexing and quality reports.☆18Feb 26, 2026Updated 3 weeks ago
- ☆41Jun 16, 2025Updated 9 months ago
- ☆11Mar 5, 2025Updated last year
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 4 years ago
- Methylation Phasing for Nanopore Sequencing☆49Mar 5, 2023Updated 3 years ago
- Variant annotation and merging pipeline☆43Jul 22, 2025Updated 8 months ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- ☆20Nov 30, 2023Updated 2 years ago
- TELOmere SEARCH in Long sequencing Reads☆12Dec 26, 2025Updated 2 months ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- NiPTUNE. A Python library for NIPT analyses.☆11Nov 22, 2021Updated 4 years ago
- iMAP v1.0 (Pre-release): Integrated Microbiome Analysis Pipeline☆13Feb 10, 2026Updated last month
- ☆11Dec 7, 2022Updated 3 years ago
- Programming for Biology @ CSHL 2023☆14Oct 17, 2025Updated 5 months ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆30Jan 30, 2026Updated last month
- The world's first Dockerfile-based Autonomous Coding Agent☆14Apr 1, 2025Updated 11 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 4 years ago
- do some exercise☆14Dec 2, 2025Updated 3 months ago