Genotek / ClassifyCNV
ClassifyCNV: a tool for clinical annotation of copy-number variants
☆60Updated last year
Alternatives and similar repositories for ClassifyCNV:
Users that are interested in ClassifyCNV are comparing it to the libraries listed below
- ☆39Updated 9 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 4 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- CN-Learn☆29Updated 5 years ago
- TIDDIT - structural variant calling☆73Updated last week
- Data and information about the Polaris study☆53Updated 5 years ago
- ☆16Updated 3 years ago
- Concordance and contamination estimator for tumor–normal pairs☆56Updated 3 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- R package designed to simplify structural variant analysis☆71Updated 3 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆31Updated 2 months ago
- QDNAseq package for Bioconductor☆49Updated 6 months ago
- for visual evaluation of read support for structural variation☆51Updated 7 months ago
- ENCODE long read RNA-seq pipeline☆44Updated 2 years ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- Burden testing against public controls☆50Updated 11 months ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆69Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆26Updated last year
- Structural Variant Index☆71Updated last month
- Comprehensive benchmark of structural variant callers☆45Updated 3 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- ☆51Updated 2 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆20Updated 2 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated 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
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆40Updated 4 months ago
- Read visualizer for structural variants☆81Updated 6 years ago
- ☆45Updated 5 years ago
- CNV screening and annotation tool☆24Updated 8 years ago