rkimoakbioinformatics / oakvar
Genomic variant analysis platform
☆32Updated this week
Related projects ⓘ
Alternatives and complementary repositories for oakvar
- Transcript versions for HGVS libraries☆29Updated last month
- PERF is an Exhaustive Repeat Finder☆33Updated 3 years ago
- Variant catalogue pipeline☆25Updated 3 months ago
- Tool suite for HGVS variant descriptions☆34Updated this week
- Pandas-based Data Handler for VCF, BED, and SAM Files☆32Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Intersect multiple VCF files with haplotype awareness☆25Updated 3 years ago
- ClinVar Mapping and Annotation Toolkit☆19Updated 3 weeks ago
- VEP Plugin to annotate high-impact five prime UTR variants☆24Updated 2 months ago
- trackplot is a tool for visualizing various next-generation sequencing (NGS) data, including DNA-seq, RNA-seq, single-cell RNA-seq and fu…☆75Updated 2 months ago
- Master of Pores 2☆23Updated last year
- ☆33Updated last month
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆36Updated last month
- Powerful statistics for VCF files☆64Updated last year
- Genomic VCF to tab-separated values☆47Updated last year
- CrossMap is a python program to lift over genome coordinates from one genome version to another.☆74Updated 3 weeks ago
- Rareservoir Database Tools☆13Updated last year
- Generic human DNA variant annotation pipeline☆56Updated 8 months ago
- ☆29Updated 2 years ago
- ☆18Updated 4 months ago
- PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.☆16Updated 6 months ago
- Deep learning-based structural variant filtering method☆35Updated 11 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆33Updated 4 months ago
- mtDNA Variant Caller☆32Updated last month
- An insertion caller for Illumina paired-end WGS data.☆22Updated 3 months ago
- An open-source and scalable solution to NGS analysis powered by the NIH's Biowulf cluster.☆4Updated last year
- ☆17Updated 2 years ago
- ✂️ Deep learning-based splice site predictor that improves spliced alignments☆36Updated 2 weeks ago
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆41Updated 6 months ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆46Updated this week