openvar / variantValidator
Public repository for VariantValidator project
☆75Updated 2 weeks ago
Alternatives and similar repositories for variantValidator:
Users that are interested in variantValidator are comparing it to the libraries listed below
- 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
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆97Updated 2 years ago
- ☆82Updated 6 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆80Updated 4 months ago
- Data and information about the Polaris study☆53Updated 5 years ago
- ABRA2☆92Updated 2 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆68Updated 7 months ago
- A Python package for pharmacogenomics (PGx) research☆73Updated 2 months ago
- PGxPOP☆16Updated 2 years ago
- Software program for checking sample matching for NGS data☆130Updated 10 months ago
- Reference data: BED files, genes, transcripts, variations.☆83Updated 7 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- a Medical Genetics Sequence Analysis Pipeline☆82Updated this week
- This repository contains information about latest release from Genome in a Bottle project☆74Updated 5 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- identifying mutational significance in cancer genomes☆61Updated 2 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆62Updated last year
- Read visualizer for structural variants☆83Updated 6 years ago
- 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
- Relevant papers for CNV and SV approaches☆94Updated 5 months ago
- Segmented HAPlotype Estimation and Imputation Tool☆77Updated 8 months ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆78Updated 5 years ago
- Tools to work with GWAS-VCF summary statistics files☆118Updated 6 months ago
- An awk-like VCF parser☆56Updated last year
- Transcript versions for HGVS libraries☆30Updated 3 months ago
- Burden testing against public controls☆50Updated last year
- A suite of tools for detecting expansions of short tandem repeats☆80Updated last year
- WisecondorX — An evolved WISECONDOR☆97Updated 7 months ago