PacificBiosciences / TRexs
TRGT Repeat expansion summary
☆10Updated last year
Related projects: ⓘ
- VNTR annotation using motif selection☆28Updated 3 weeks ago
- De novo tandem repeat calling from PacBio HiFi data☆12Updated 3 weeks ago
- Variant annotation and merging pipeline☆26Updated 3 weeks ago
- Structural variant discovery and genotyping from mapped PacBio HiFi data☆22Updated last week
- Tumour-only somatic mutation calling using long reads☆22Updated 6 months ago
- A VCF comparison engine for structual variant benchmarking☆18Updated 5 months ago
- SV calling for diploid assemblies☆23Updated 5 months ago
- somatic SV calling on matched tumor-normal co-assembly graphs☆16Updated last month
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆23Updated 4 months ago
- ☆19Updated 5 months ago
- A module for improving the insertion sequences of structural variant calls☆28Updated 3 years ago
- Segmental Duplication Assembler (SDA).☆44Updated last year
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆32Updated 2 years ago
- ☆29Updated 2 years ago
- ☆38Updated last week
- Working space for the GIAB TR benchmarking project☆20Updated 4 months ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆26Updated 3 months ago
- Set of tools to manipulate and visualize modified base bam files☆47Updated 2 years ago
- Methylmap is a tool for visualization of modified nucleotide frequencies for large cohort sizes.☆18Updated last week
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated 9 months ago
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆28Updated last year
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆19Updated 3 months ago
- My experimental tools on top of htslib. NOT OFFICIAL!!!☆52Updated last year
- Structural variant caller☆53Updated 2 years ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆53Updated 2 weeks ago
- ☆21Updated 4 years ago
- Very simple and configurable all-in-one dotplot program☆12Updated last year