jmonlong / sveval
Functions to compare a SV call sets against a truth set.
☆26Updated 6 months ago
Related projects ⓘ
Alternatives and complementary repositories for sveval
- ☆12Updated 3 years ago
- Kmer based genotyper for short reads.☆23Updated 3 years ago
- Split a BAM file by haplotype support☆16Updated 6 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆12Updated 4 years ago
- Population-scale detection of non-reference sequence variants using colored de Bruijn Graphs☆24Updated 6 months ago
- A framework to annotate SVs with previous known SVs (vcf file) and or with genomic features (gff and or bed files)☆13Updated 6 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆27Updated 2 months ago
- Unfazed by genomic variant phasing☆26Updated 5 months ago
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- Archived version 1.0.2☆16Updated 5 years ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆22Updated 5 years ago
- SAMsift: advanced filtering and tagging of SAM/BAM alignments using Python expressions.☆23Updated 6 years ago
- Teaching modules for Human Genome Variation Lab.☆19Updated 3 months ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 3 weeks ago
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆25Updated 2 months ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 2 years ago
- Simultaneous multi-sample transcript assembler for RNA-seq data☆17Updated 2 years ago
- Identification of segmental duplications in the genome☆26Updated 2 years ago
- ☆21Updated 5 years ago
- Transposon Insertion Finder - Detection of new TE insertions in NGS data☆20Updated 2 years ago
- Benchmark structural variant calls against a reference set☆17Updated last month
- Phase reads, assemble haplotypes and detect SVs☆19Updated 4 years ago
- Ultra-efficient mapping-free structural variation genotyper☆18Updated 3 years ago
- Method to optimally select samples for validation and resequencing☆26Updated 3 years ago
- TideHunter: efficient and sensitive tandem repeat detection from noisy long reads using seed-and-chain☆19Updated 5 months ago
- Reducing reference bias using multiple population reference genomes☆32Updated 5 months ago
- Methylmap is a tool for visualization of modified nucleotide frequencies for large cohort sizes.☆18Updated last week