Illumina / ExpansionHunterDenovo
A suite of tools for detecting expansions of short tandem repeats
☆80Updated last year
Related projects ⓘ
Alternatives and complementary repositories for ExpansionHunterDenovo
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆65Updated 2 months ago
- Jasmine: SV Merging Across Samples☆180Updated last year
- A tool for profiling long STRs from short reads☆87Updated 3 years ago
- ☆103Updated this week
- Lima - Demultiplex Barcoded PacBio Samples☆65Updated last week
- Data and information about the Polaris study☆52Updated 4 years ago
- pbsv - PacBio structural variant (SV) calling and analysis tools☆129Updated last week
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆75Updated last year
- Tandem repeat genotyping and visualization from PacBio HiFi data☆105Updated last month
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆93Updated 5 months ago
- Toolkit for calling structural variants using short or long reads☆95Updated 2 weeks ago
- ☆36Updated 6 months ago
- Snakemake-based workflow for detecting structural variants in genomic data☆77Updated 8 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆102Updated 4 years ago
- Nextflow pipeline for analysis of direct RNA Nanopore reads☆93Updated last month
- don't get DUP'ed or DEL'ed by your putative SVs.☆101Updated 3 years ago
- Data from the Human PanGenomics Project☆60Updated 3 years ago
- Transcriptome Annotation by Modular Algorithms (for long read RNA sequencing data)☆128Updated last year
- WisecondorX — An evolved WISECONDOR☆94Updated last month
- phasing and Allele Specific Expression from RNA-seq☆110Updated 3 months ago
- Nanopore RNA-Seq data from the Singapore Nanopore-Expression Project☆111Updated 2 weeks ago
- Variant Calling Pipeline Using GATK4 and Nextflow☆52Updated last year
- ABRA2☆90Updated last year
- Relevant papers for CNV and SV approaches☆94Updated this week
- Automatic DNA methylation detection from nanopore tools and their consensus model☆72Updated last year
- Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics☆102Updated 4 months ago
- Tools for the analysis of structural variation in genomes☆76Updated 7 months ago
- BAM Statistics, Feature Counting and Annotation☆145Updated last week