Illumina / SMNCopyNumberCaller
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
☆49Updated last year
Alternatives and similar repositories for SMNCopyNumberCaller:
Users that are interested in SMNCopyNumberCaller are comparing it to the libraries listed below
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 5 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- ☆39Updated 9 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- Data and information about the Polaris study☆53Updated 5 years ago
- ☆52Updated 2 years ago
- A suite of tools for detecting expansions of short tandem repeats☆80Updated last year
- don't get DUP'ed or DEL'ed by your putative SVs.☆104Updated 4 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- QDNAseq package for Bioconductor☆49Updated 6 months ago
- Structural Variant Index☆71Updated 2 months ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆75Updated last year
- Comprehensive benchmark of structural variant callers☆45Updated 4 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
- A tool for profiling long STRs from short reads☆94Updated 3 years ago
- CNV screening and annotation tool☆24Updated 8 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- Tools for the analysis of structural variation in genomes☆78Updated 10 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated 2 months ago
- R package designed to simplify structural variant analysis☆72Updated 3 years ago
- TIDDIT - structural variant calling☆74Updated last month
- ☆35Updated 3 years ago
- 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
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆96Updated 9 months ago
- ☆45Updated 5 years ago
- CN-Learn☆29Updated 5 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆70Updated 7 years ago
- Read visualizer for structural variants☆81Updated 6 years ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 4 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated last week