lganel / SVScoreLinks
Prioritize structural variants based on CADD scores
☆29Updated 5 years ago
Alternatives and similar repositories for SVScore
Users that are interested in SVScore are comparing it to the libraries listed below
Sorting:
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆57Updated 3 years ago
- FermiKit small variant calls for public SGDP samples☆17Updated 8 years ago
- SVsim: a tool that generates synthetic Structural Variant calls as benchmarks to test/evaluate SV calling pipelines.☆17Updated 7 years ago
- Hemang Parikh☆11Updated 9 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated last year
- Graphite - Graph-based variant adjudication☆28Updated 4 years ago
- program for haplotype phasing from sequence reads and related tools☆25Updated 6 years ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 9 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- ☆35Updated 4 years ago
- ☆51Updated 5 years ago
- Population-wide Deletion Calling☆35Updated 3 months ago
- Structural variant (SV) analysis tools☆36Updated last year
- Functions to compare a SV call sets against a truth set.☆30Updated 3 weeks ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- ☆30Updated 2 years ago
- Genotype and phase short tandem repeats using Illumina whole-genome sequencing data☆32Updated 4 years ago
- Structural variant caller☆54Updated 3 years ago
- A framework to annotate SVs with previous known SVs (vcf file) and or with genomic features (gff and or bed files)☆13Updated 7 years ago
- Evaluation of phasing performance☆23Updated 7 years ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 4 months ago