Clinical-Genomics / genmodLinks
Annotate models of genetic inheritance patterns in variant files (vcf files)
☆84Updated 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.☆99Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- Platypus Variant Caller☆108Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- Read visualizer for structural variants☆84Updated 7 years ago
- ☆55Updated 5 years ago
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆90Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 5 years ago
- Data and information about the Polaris study☆54Updated 6 years ago
- Flexible genotype query among 30,000+ samples whole-genome☆94Updated 6 years ago
- R package designed to simplify structural variant analysis☆74Updated 4 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆107Updated 5 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated last month
- NEAT read simulation tools☆101Updated 3 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆76Updated 6 months ago
- TIDDIT - structural variant calling☆78Updated 3 weeks ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 3 months ago
- An awk-like VCF parser☆56Updated last year
- Phenotype driven gene prioritization for HPO☆51Updated 4 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆57Updated 5 years ago
- Simple vcf parser, based on PyVCF☆48Updated 7 years ago
- ☆82Updated 7 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Assembly Based ReAligner☆74Updated 7 years ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆174Updated last year
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆72Updated 7 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated 2 years ago
- Generic human DNA variant annotation pipeline☆59Updated last year
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- Concordance and contamination estimator for tumor–normal pairs☆59Updated last year