1kg-ont-vienna / sv-analysisLinks
SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel
☆25Updated 2 months ago
Alternatives and similar repositories for sv-analysis
Users that are interested in sv-analysis are comparing it to the libraries listed below
Sorting:
- ☆21Updated 4 months ago
- Tumour-only somatic mutation calling using long reads☆27Updated 8 months ago
- This tools counts the number of specific k-mers within sequence data. The counts can then be compare to other counts to determine to comp…☆29Updated 7 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆36Updated last year
- ☆48Updated last year
- Tandem repeat genotyping with long reads☆28Updated last month
- A module for improving the insertion sequences of structural variant calls☆30Updated 4 years ago
- Kmer Analysis of Pileups for Genotyping☆31Updated 2 weeks ago
- Working space for the GIAB TR benchmarking project☆21Updated 8 months ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆43Updated last month
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆29Updated 7 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Population-wide Deletion Calling☆35Updated 3 months ago
- Structural variant (SV) analysis tools☆36Updated last year
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆49Updated 4 months ago
- ☆30Updated 2 years ago
- VNTR annotation using motif selection☆35Updated last month
- Methylmap is a tool for visualization of modified nucleotide frequencies for large cohort sizes.☆20Updated 4 months ago
- De novo tandem repeat calling from PacBio HiFi data☆17Updated last month
- Variant annotation and merging pipeline☆36Updated last month
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated last year
- ☆31Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated last year
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆27Updated 9 months ago
- Short Tandem Repeat disease loci resource☆19Updated last week
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆57Updated 3 years ago
- somatic SV calling on matched tumor-normal co-assembly graphs☆22Updated 11 months ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- SV genotyping with long reads☆39Updated 2 years ago
- Detect and phase minor SNVs from long-read sequencing data☆14Updated 3 years ago