0xTCG / aldy
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
☆62Updated last month
Alternatives and similar repositories for aldy:
Users that are interested in aldy are comparing it to the libraries listed below
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆32Updated last month
- Data and information about the Polaris study☆53Updated 5 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated last month
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆97Updated 2 years ago
- A tool to genotype CYP2D6 with WGS data☆51Updated 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
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 6 months ago
- ☆68Updated 2 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆27Updated last year
- Read visualizer for structural variants☆82Updated 6 years ago
- A Python package for pharmacogenomics (PGx) research☆68Updated last month
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated 3 weeks ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆104Updated 4 years ago
- Clinical interpretation of somatic mutations in cancer☆44Updated last month
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆56Updated 3 years ago
- TIDDIT - structural variant calling☆74Updated last week
- PGxPOP☆16Updated 2 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆82Updated last month
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆61Updated last year
- Human Pangenome Reference Consortium - HG002 Data Freeze (v1.0)☆77Updated 2 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated this week
- Generic human DNA variant annotation pipeline☆58Updated last year
- ☆39Updated 11 months ago
- Relevant papers for CNV and SV approaches☆94Updated 4 months ago
- Burden testing against public controls☆50Updated last year
- This repository contains information about latest release from Genome in a Bottle project☆73Updated 5 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆44Updated last year