Clinical-Genomics / genmodLinks
Annotate models of genetic inheritance patterns in variant files (vcf files)
☆84Updated 2 months 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
- Phenotype driven gene prioritization for HPO☆50Updated 4 years ago
- Read visualizer for structural variants☆84Updated 7 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆74Updated 4 months ago
- An awk-like VCF parser☆56Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆68Updated 2 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 4 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆73Updated last year
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago
- Data and information about the Polaris study☆54Updated 5 years ago
- ☆54Updated 5 years ago
- R package designed to simplify structural variant analysis☆73Updated 3 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆72Updated 7 years ago
- Thousand Variant Callers Project Repository☆73Updated 6 years ago
- Platypus Variant Caller☆108Updated last year
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated last year
- Flexible genotype query among 30,000+ samples whole-genome☆94Updated 6 years ago
- Workflows used for WGS data processing -- replaced by https://github.com/gatk-workflows/gatk4-genome-processing-pipeline☆57Updated 5 years ago
- VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications☆90Updated last year
- TIDDIT - structural variant calling☆77Updated 6 months ago
- De novo assembly based variant calling pipeline for Illumina short reads☆109Updated 4 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated 2 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆56Updated 5 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated 2 weeks ago
- phasing and Allele Specific Expression from RNA-seq☆116Updated last year
- NEAT read simulation tools☆101Updated 3 years ago
- ☆82Updated 6 years ago
- Relevant papers for CNV and SV approaches☆94Updated 11 months ago
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆55Updated 5 years ago