Illumina / CyriusLinks
A tool to genotype CYP2D6 with WGS data
☆53Updated last year
Alternatives and similar repositories for Cyrius
Users that are interested in Cyrius are comparing it to the libraries listed below
Sorting:
- Data and information about the Polaris study☆53Updated 5 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆36Updated 2 months ago
- Tools for the analysis of structural variation in genomes☆81Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated last year
- Structural Variant Index☆75Updated 9 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 4 years ago
- Calling star alleles in highly polymorphic pharmacogenes (e.g. CYP450 genes) by leveraging genome graph-based variant detection.☆34Updated 3 weeks ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆67Updated 2 years ago
- A suite of tools for detecting expansions of short tandem repeats☆83Updated 2 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆74Updated 3 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Updated 4 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 7 months ago
- Data from the Human PanGenomics Project☆60Updated 4 years ago
- Toolkit for calling structural variants using short or long reads☆109Updated 2 weeks ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- SV caller for nanopore data☆92Updated 5 years ago
- A tool for visualizing alignments of reads in regions containing tandem repeats☆87Updated last year
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆82Updated 2 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆51Updated 4 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆51Updated 5 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated last year
- Fast and accurate coordinate conversion between assemblies☆116Updated 2 weeks ago
- Support Vector Structural Variation Genotyper☆58Updated 5 years ago
- A tool for profiling long STRs from short reads☆99Updated 4 years ago
- WDL’s and Dockerfiles for assembly QC process☆69Updated 2 months ago
- ☆35Updated 3 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year