PacificBiosciences / pbfusion
☆19Updated 5 months ago
Related projects: ⓘ
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- ☆38Updated last week
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆44Updated 3 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆23Updated 4 months ago
- Immuological gene typing and annotation for genome assembly☆30Updated last month
- Set of tools to manipulate and visualize modified base bam files☆47Updated 2 years ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 7 years ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆28Updated last year
- LongcallR is a small variant caller for single molecule long-read RNA-seq data☆40Updated last week
- TRGT Repeat expansion summary☆10Updated last year
- Structural variant (SV) analysis tools☆36Updated 2 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- MarginPolish: Graph based assembly polishing☆45Updated 3 years ago
- Working space for the GIAB TR benchmarking project☆20Updated 4 months ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated 9 months ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆53Updated 2 weeks ago
- ☆27Updated last year
- Methylmap is a tool for visualization of modified nucleotide frequencies for large cohort sizes.☆18Updated last week
- Population-wide Deletion Calling☆34Updated 2 weeks ago
- Structural Variant Prediction Viewer☆30Updated 7 years ago
- VNTR annotation using motif selection☆28Updated 3 weeks ago
- Structural variant caller☆53Updated 2 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆27Updated 3 years ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆42Updated last month
- Transcript assembly and quantification for RNA-Seq☆8Updated 4 years ago
- PopSTR - A Population based microsatellite genotyper☆31Updated 10 months ago
- fusion transcript detection using long reads, leveraging ctat-minimap2 and FusionInspector☆13Updated this week
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆32Updated 2 years ago
- ☆79Updated 4 months ago