SBIMB / StellarPGx
Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.
☆33Updated last month
Alternatives and similar repositories for StellarPGx
Users that are interested in StellarPGx are comparing it to the libraries listed below
Sorting:
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes☆62Updated 3 weeks ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆69Updated 8 months ago
- Burden testing against public controls☆50Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- ☆39Updated last year
- CNV screening and annotation tool☆25Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated 2 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆33Updated 10 months ago
- PGxPOP☆16Updated 2 years ago
- A Python package for pharmacogenomics (PGx) research☆73Updated 2 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 2 years ago
- TIDDIT - structural variant calling☆73Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆62Updated last year
- R package for inferring copy number from read depth☆32Updated 2 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 3 months ago
- A tool to genotype CYP2D6 with WGS data☆51Updated last year
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆52Updated 4 years ago
- A suite of tools for detecting expansions of short tandem repeats☆80Updated last year
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆79Updated 2 years ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆36Updated last month
- ⛏ HLA predictions from NGS shotgun data☆53Updated 3 weeks ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 5 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated last week
- Phenotype driven gene prioritization for HPO☆45Updated 3 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 4 years ago
- mtDNA Variant Caller☆34Updated 4 months ago
- Powerful statistics for VCF files☆69Updated last year