tkoomar / VCFdbR
These scripts reformat a VCF into a SQLite database, with R
☆14Updated 3 years ago
Related projects ⓘ
Alternatives and complementary repositories for VCFdbR
- CADD-SV – a framework to score the effect of structural variants☆14Updated last week
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- Scalable and High Performance Variant Calling on Cluster Environments☆10Updated 2 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆16Updated 2 years ago
- ☆15Updated 6 months ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- Automated Detection and Qualification of Differential Methylation☆11Updated 11 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 4 months ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆16Updated last year
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- ☆12Updated 3 years ago
- ☆9Updated 2 years ago
- A set of tools to annotate VCF files with expression and readcount data☆25Updated 2 months ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- ☆11Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆24Updated 6 months ago
- ☆20Updated 11 months ago
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆17Updated 3 months ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- ☆13Updated last year
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last week
- Sample Contamination Estimate from VCF☆19Updated last week
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆19Updated 3 weeks ago
- ☆29Updated 2 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- Population-wide Deletion Calling☆34Updated 2 months ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year