A tool kit to manage many variant on desktop computer
☆13Jan 13, 2026Updated last month
Alternatives and similar repositories for variantplaner
Users that are interested in variantplaner are comparing it to the libraries listed below
Sorting:
- 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
- RNAseq pipeline for alternative splicing junctions☆14Apr 23, 2025Updated 10 months ago
- These scripts reformat a VCF into a SQLite database, with R☆15Jul 15, 2021Updated 4 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.☆17Feb 11, 2025Updated last year
- A new tool to infer sex from massively parallel sequencing data.☆17May 16, 2025Updated 9 months ago
- Convert vcf in parquet☆29Jan 23, 2025Updated last year
- ☆11Oct 11, 2024Updated last year
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆25Updated this week
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last week
- ☆11Apr 3, 2023Updated 2 years ago
- ☆11Dec 9, 2022Updated 3 years ago
- ☆13Apr 18, 2022Updated 3 years ago
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated 4 months ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆13Jun 10, 2022Updated 3 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 5 years ago
- Utilities to detect and profile `het-kmers`☆12Aug 5, 2024Updated last year
- WebApp for DNA variants interpretation☆14Feb 20, 2026Updated 2 weeks ago
- Curated list of resources for variant prioritization☆13Nov 18, 2025Updated 3 months ago
- ☆27Feb 20, 2026Updated 2 weeks ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- CNV Rapid Aberration Detection And Reporting☆12Mar 2, 2021Updated 5 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- NiPTUNE. A Python library for NIPT analyses.☆12Nov 22, 2021Updated 4 years ago
- Highly Open Workflow for Annotation & Ranking toward genomic variant Discovery☆12Feb 11, 2026Updated 3 weeks ago
- ☆29Feb 17, 2021Updated 5 years ago
- Basic UPD caller☆12Aug 23, 2021Updated 4 years ago
- do some exercise☆14Dec 2, 2025Updated 3 months ago
- ☆14Oct 3, 2017Updated 8 years ago
- mon blog disponible sur dridk.me☆11Oct 28, 2024Updated last year
- nimble aligner that will map your reads to the references on a laptop☆11Jun 29, 2017Updated 8 years ago
- 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
- An Artificial Neural Network-based discriminator for validating clinically significant genomic variants☆35Dec 25, 2023Updated 2 years ago
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 3 weeks ago
- Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data☆18Nov 26, 2021Updated 4 years ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Feb 21, 2026Updated last week