sigven / gvannoLinks
Generic human DNA variant annotation pipeline
☆59Updated last year
Alternatives and similar repositories for gvanno
Users that are interested in gvanno are comparing it to the libraries listed below
Sorting:
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆55Updated this week
- R package designed to simplify structural variant analysis☆73Updated 3 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- for visual evaluation of read support for structural variation☆55Updated last year
- QDNAseq package for Bioconductor☆53Updated last year
- Powerful statistics for VCF files☆72Updated this week
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Burden testing against public controls☆50Updated last year
- Gene Fusion Visualiser☆51Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆34Updated 2 years ago
- TIDDIT - structural variant calling☆77Updated 7 months ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 9 months ago
- Cancer Predisposition Sequencing Reporter (CPSR)☆62Updated last month
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆47Updated 5 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- BigWig and BAM utilities☆98Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 3 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- ☆44Updated last year
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆41Updated 2 months ago
- Genomic VCF to tab-separated values☆48Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Mapped QC analysis program☆44Updated 7 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆37Updated 5 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- R package for inferring copy number from read depth☆32Updated 3 years ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated last year