sigven / gvannoLinks
Generic human DNA variant annotation pipeline
☆58Updated last year
Alternatives and similar repositories for gvanno
Users that are interested in gvanno are comparing it to the libraries listed below
Sorting:
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆49Updated this week
- (WIP) best-practices workflow for rare disease☆60Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated 2 weeks ago
- R package designed to simplify structural variant analysis☆73Updated 3 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- Genomic VCF to tab-separated values☆47Updated 2 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Burden testing against public controls☆50Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- for visual evaluation of read support for structural variation☆54Updated last year
- chimeraviz is an R package that automates the creation of chimeric RNA visualizations.☆37Updated last year
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 6 months ago
- Support code for NGS copy number algorithms. Takes a file of locations and a [cr|b]am file and generates a count of coverage of each alle…☆45Updated 3 years ago
- TIDDIT - structural variant calling☆76Updated 4 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- QDNAseq package for Bioconductor☆50Updated last year
- R package for inferring copy number from read depth☆32Updated 2 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Updated 9 months ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Please consider using/contributing to https://github.com/nf-core/sarek☆41Updated 4 years ago
- Method for detecting STR expansions from short-read sequencing data☆63Updated 3 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago