monarch-initiative / SvAnnaLinks
Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
☆36Updated last year
Alternatives and similar repositories for SvAnna
Users that are interested in SvAnna are comparing it to the libraries listed below
Sorting:
- Variant annotation and merging pipeline☆36Updated last month
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- ☆48Updated last year
- Working space for the GIAB TR benchmarking project☆21Updated 8 months ago
- ☆80Updated 4 months ago
- ☆31Updated 10 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated 2 months ago
- MarginPolish: Graph based assembly polishing☆46Updated 4 years ago
- Structural variant merging tool☆52Updated 10 months ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- modPhred is a pipeline for detection of DNA/RNA modifications from raw ONT data☆16Updated last year
- Set of tools to manipulate and visualize modified base bam files☆56Updated 2 years ago
- A battery of methylation tools for PacBio HiFi reads☆36Updated last month
- MethPhaser: methylation-based haplotype phasing of human genomes☆48Updated 4 months ago
- Structural variant caller☆54Updated 3 years ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆49Updated 4 months ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆43Updated last month
- A new tool to infer sex from massively parallel sequencing data.☆17Updated 2 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Error correction of ONT transcript reads☆58Updated last year
- ☆42Updated 10 months ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- DNA methylation analysis downstream to Nanopolish for Oxford Nanopore DNA sequencing datasets☆28Updated 2 years ago
- Exact Tandem Repeat Finder (not a TRF replacement)☆49Updated 5 years ago
- ☆36Updated last week
- SV genotyping with long reads☆39Updated 2 years ago
- DNA methylation analysis downstream to Nanopolish for Oxford Nanopore DNA sequencing datasets☆34Updated 4 years ago
- ☆34Updated last year
- Copy number variant caller and depth visualization utility for PacBio HiFi reads☆43Updated 8 months ago
- ☆29Updated 4 years ago