Tandem repeat genotyping from long reads
☆20Updated this week
Alternatives and similar repositories for STRdust
Users that are interested in STRdust are comparing it to the libraries listed below
Sorting:
- ☆13Apr 18, 2022Updated 3 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 5 months ago
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- A short tandem repeat (STR) genotyping and analysis toolkit for long reads☆17Feb 19, 2026Updated last week
- 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
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- nPoRe: n-Polymer Realigner for improved pileup-based variant calling☆18Jul 11, 2022Updated 3 years ago
- De novo tandem repeat calling from PacBio HiFi data☆19Dec 5, 2025Updated 2 months ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Dec 13, 2019Updated 6 years ago
- Kmer Analysis of Pileups for Genotyping☆36Jan 30, 2026Updated last month
- ☆39Jul 3, 2025Updated 7 months ago
- ☆24Jul 29, 2025Updated 7 months ago
- Complex structural variant visualization for HiFi sequencing data☆46Oct 24, 2025Updated 4 months ago
- A CNN model to identify MEIs in WGS☆12Mar 4, 2025Updated 11 months ago
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆25Updated this week
- Structural Variants Assessment Based on Haplotype-resolved Assemblies☆21Apr 28, 2023Updated 2 years ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Updated this week
- Enabling differential allele-specific analysis☆11Dec 28, 2024Updated last year
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- SUPBUB is a tool that, in linear time, finds out superbubbles(special graph-structures) in a directed graph.☆12Sep 19, 2019Updated 6 years ago
- 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
- Pipeline for generating RNAseq-based cancer patient reports☆11Updated this week
- MethPhaser: methylation-based haplotype phasing of human genomes☆54Mar 5, 2025Updated 11 months ago
- ☆23Sep 21, 2021Updated 4 years ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆49Sep 2, 2025Updated 5 months ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- A CNN - based pipeline for calling somatic SNP and INDEL variants without a matched normal☆11Sep 7, 2022Updated 3 years ago
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆14Aug 25, 2025Updated 6 months ago
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆13Oct 7, 2025Updated 4 months ago
- Preprocessing sequencing data for allele-specific analysis☆12Mar 11, 2025Updated 11 months ago
- Run multiple programs to check if a VCF is usable☆11May 15, 2020Updated 5 years ago
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 3 years ago
- UMCU Genetics Nextflow modules☆30Oct 25, 2024Updated last year
- This tools counts the number of specific k-mers within sequence data. The counts can then be compare to other counts to determine to comp…☆30Nov 25, 2024Updated last year
- POSTRE: Prediction Of STRuctural variant Effects☆28Jan 9, 2026Updated last month
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- A Practical (And Opinionated) Guide To Analyzing 450K Data☆35Oct 2, 2014Updated 11 years ago