0xTCG / aldy
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes
☆60Updated this week
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 this week
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- Burden testing against public controls☆50Updated 11 months ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆79Updated this week
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆78Updated 2 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆82Updated last week
- CrossMap is a python program to lift over genome coordinates from one genome version to another.☆80Updated last week
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆27Updated last year
- CNV screening and annotation tool☆24Updated 8 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆56Updated 3 years ago
- Relevant papers for CNV and SV approaches☆94Updated 3 months ago
- Documenting usage and experience with bioinformatic tools☆41Updated 9 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 5 months ago
- A tool to genotype CYP2D6 with WGS data☆51Updated last year
- ☆39Updated 9 months ago
- A Python package for pharmacogenomics (PGx) research☆66Updated 6 months ago
- Phenotype driven gene prioritization for HPO☆45Updated 3 years ago
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- 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
- NEAT read simulation tools☆97Updated 2 years ago
- This repository contains information about latest release from Genome in a Bottle project☆73Updated 5 years ago
- Clinical interpretation of somatic mutations in cancer☆44Updated 2 years ago
- PGxPOP☆16Updated 2 years ago
- Workflows used for WGS data processing -- replaced by https://github.com/gatk-workflows/gatk4-genome-processing-pipeline☆57Updated 5 years ago
- FusionInspector code☆57Updated 3 months ago
- Reference data: BED files, genes, transcripts, variations.☆82Updated 7 years ago
- Battenberg algorithm and associated implementation script☆52Updated 4 years ago
- Characterization of Germline variants☆98Updated 2 years ago