VCCRI / VPOT
VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF files.
☆11Updated 3 years ago
Alternatives and similar repositories for VPOT:
Users that are interested in VPOT are comparing it to the libraries listed below
- Call regions of homozygosity and make tentative UPD calls☆11Updated 4 months ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- CADD-SV – a framework to score the effect of structural variants☆14Updated last month
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 9 months ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated 5 months ago
- Specific Transposable Element Aligner (HERV-K)☆16Updated 5 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Clinical Variant Annotation Pipeline☆10Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 months ago
- Sample Contamination Estimate from VCF☆19Updated 5 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- A transposition caller.☆10Updated last year
- Aggregation and analyses of rare CNVs across diseases☆14Updated 2 years ago
- ☆20Updated 6 months ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last week
- Prioritize structural variants based on CADD scores☆29Updated 4 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- ☆21Updated last week
- A tool for sample swap identification in high throughput sequencing studies☆10Updated last month
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 10 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated last month
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 8 months ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- Official code repository for JAX-CNV☆12Updated 5 years ago
- An insertion caller for Illumina paired-end WGS data.☆23Updated 8 months ago