charite / jannovar
Annotation of VCF variants with functional impact and from databases (executable+library)
☆58Updated 2 weeks ago
Related projects ⓘ
Alternatives and complementary repositories for jannovar
- This repository contains information about latest release from Genome in a Bottle project☆73Updated 5 years ago
- Assembly Based ReAligner☆72Updated 6 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆69Updated 6 years ago
- MuTect -- Accurate and sensitive cancer mutation detection☆94Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- ☆81Updated 5 years ago
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆80Updated last month
- Read visualizer for structural variants☆81Updated 6 years ago
- Data and information about the Polaris study☆52Updated 5 years ago
- Tools for next-generation sequencing analysis☆88Updated 5 years ago
- Documentation and description of AWS iGenomes S3 resource.☆107Updated 4 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆48Updated 5 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆94Updated 6 months ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated 8 months ago
- ABRA2☆91Updated last year
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆54Updated 7 years ago
- Workflows used for WGS data processing -- replaced by https://github.com/gatk-workflows/gatk4-genome-processing-pipeline☆57Updated 4 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆74Updated 5 months ago
- mtDNA Variant Caller☆32Updated last month
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 5 years ago
- RTG Core: Software for alignment and analysis of next-gen sequencing data.☆45Updated 10 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆101Updated 3 years ago
- De novo assembly based variant calling pipeline for Illumina short reads☆107Updated 3 years ago
- Tools for early stage alignment file processing☆93Updated 5 years ago
- Documenting usage and experience with bioinformatic tools☆40Updated 9 years ago
- Obsolete/Legacy GATK repository -- go to https://github.com/broadinstitute/gatk instead☆33Updated 7 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆78Updated this week
- Flexible genotype query among 30,000+ samples whole-genome☆96Updated 5 years ago
- ☆52Updated 4 years ago
- Concordance and contamination estimator for tumor–normal pairs☆56Updated last month