Clinical-Genomics / genmodLinks
Annotate models of genetic inheritance patterns in variant files (vcf files)
☆82Updated 2 weeks ago
Alternatives and similar repositories for genmod
Users that are interested in genmod are comparing it to the libraries listed below
Sorting:
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Platypus Variant Caller☆108Updated last year
- Read visualizer for structural variants☆84Updated 7 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated 2 years ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆166Updated last year
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆72Updated 7 years ago
- R package designed to simplify structural variant analysis☆73Updated 3 years ago
- An awk-like VCF parser☆56Updated last year
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆73Updated 2 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆71Updated 11 months ago
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆87Updated 10 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 4 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Updated 4 years ago
- Julia package powering VIVA, our tool for visualization of genomic variation data. Manual:☆86Updated 2 years ago
- Phenotype driven gene prioritization for HPO☆47Updated 4 years ago
- An NGS read trimming tool that is specific, sensitive, and speedy. (production)☆122Updated 4 months ago
- Workflows used for WGS data processing -- replaced by https://github.com/gatk-workflows/gatk4-genome-processing-pipeline☆57Updated 5 years ago
- ☆82Updated 6 years ago
- CNV screening and annotation tool☆25Updated 8 years ago
- Tools for early stage alignment file processing☆95Updated 6 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated last year
- De novo assembly based variant calling pipeline for Illumina short reads☆108Updated 4 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆87Updated last month
- This repository contains information about latest release from Genome in a Bottle project☆74Updated 6 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 6 months ago
- TIDDIT - structural variant calling☆76Updated 4 months ago
- Thousand Variant Callers Project Repository☆73Updated 5 years ago
- Microassembly based somatic variant caller for NGS data☆154Updated 3 years ago