human-pangenomics / hprc_intermediate_assembly
☆24Updated last week
Alternatives and similar repositories for hprc_intermediate_assembly
Users that are interested in hprc_intermediate_assembly are comparing it to the libraries listed below
Sorting:
- MarginPolish: Graph based assembly polishing☆46Updated 4 years ago
- Workflow Description Language (WDL) scripts for common vg workflows☆20Updated last month
- Tumour-only somatic mutation calling using long reads☆26Updated 6 months ago
- VACmap: a long-read aligner specifically designed for complex structural variation discovery☆35Updated 5 months ago
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- ☆34Updated 5 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆37Updated 10 months ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆49Updated 2 months ago
- ☆48Updated 10 months ago
- Structural variant discovery and genotyping from mapped PacBio HiFi data☆48Updated 3 weeks ago
- ☆79Updated 2 months ago
- VNTR annotation using motif selection☆33Updated last month
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆42Updated this week
- Variant annotation and merging pipeline☆34Updated last month
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆32Updated 2 years ago
- Reference-based variant calling pipeline for a pair of phased haplotype assemblies☆100Updated 3 years ago
- SV genotyping with long reads☆40Updated last year
- Set of tools to manipulate and visualize modified base bam files☆55Updated 2 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated 2 weeks ago
- SV calling for diploid assemblies☆27Updated last year
- Miscellaneous scripts for applications of PacBio systems☆27Updated 3 years ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆29Updated 5 months ago
- ☆17Updated last year
- MethPhaser: methylation-based haplotype phasing of human genomes☆48Updated 2 months ago
- vcfdist: Accurately benchmarking phased variant calls☆80Updated last week
- ☆47Updated 4 years ago
- Call select base modifications in PacBio HiFi reads☆7Updated 3 months ago
- Structural variant (SV) analysis tools☆36Updated 10 months ago
- ☆30Updated 2 years ago
- Structural variant caller☆54Updated 3 years ago