kcleal / SV_Benchmark_CMRG
Structural variant benchmark of challenging medically relevant genes
☆16Updated last year
Related projects: ⓘ
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆23Updated 4 months ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- ☆38Updated last week
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆28Updated last year
- VNTR annotation using motif selection☆28Updated 3 weeks ago
- Population-wide Deletion Calling☆34Updated 2 weeks ago
- ☆13Updated last year
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years ago
- Structural variant (SV) analysis tools☆36Updated 2 months ago
- Haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data☆18Updated last week
- Methylmap is a tool for visualization of modified nucleotide frequencies for large cohort sizes.☆18Updated last week
- Structural variant VCF annotation, duplicate removal and comparison☆26Updated 6 months ago
- Working space for the GIAB TR benchmarking project☆20Updated 4 months ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆42Updated last month
- ☆20Updated 9 months ago
- ☆29Updated 2 years ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆19Updated 6 months ago
- Immuological gene typing and annotation for genome assembly☆30Updated 3 weeks ago
- Structural Variant Prediction Viewer☆30Updated 7 years ago
- Structural variant discovery and genotyping from mapped PacBio HiFi data☆22Updated this week
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 2 months ago
- Sample Contamination Estimate from VCF☆18Updated 3 weeks ago
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆53Updated last week
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated 9 months ago
- Deep learning-based structural variant filtering method☆31Updated 10 months ago
- v2.x of the microassembly based somatic variant caller☆14Updated 3 weeks ago
- A module for improving the insertion sequences of structural variant calls☆28Updated 3 years ago
- Set of tools to manipulate and visualize modified base bam files☆47Updated 2 years ago
- Tandem repeat genotyping with long reads☆20Updated 2 weeks ago