NBISweden / wgs-structvar
Whole Genome Sequenceing Structural Variation Pipelines
☆15Updated 5 years ago
Related projects ⓘ
Alternatives and complementary repositories for wgs-structvar
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 2 years 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.☆29Updated last year
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- Python package and routines for merging VCF files☆29Updated 3 years ago
- Population-wide Deletion Calling☆35Updated 2 months ago
- ☆39Updated 2 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 5 months ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- ☆29Updated 2 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 5 years ago
- full taxonomer cython repository☆22Updated 4 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 3 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆33Updated 4 months ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 4 years ago
- Structural variant caller☆54Updated 2 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- SV genotyping with long reads☆40Updated last year
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 4 years ago
- Pipeline for structural variation detection in cohorts☆48Updated 3 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- ☆46Updated 4 months ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆16Updated last year
- A Nextflow workflow to generate lift over files for any pair of genomes☆54Updated this week
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 3 months ago