KCCG / ClinSV
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
☆67Updated 5 months ago
Alternatives and similar repositories for ClinSV:
Users that are interested in ClinSV are comparing it to the libraries listed below
- ☆39Updated 9 months ago
- CNV screening and annotation tool☆24Updated 8 years ago
- Relevant papers for CNV and SV approaches☆94Updated 3 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆104Updated 4 years ago
- QDNAseq package for Bioconductor☆49Updated 6 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- ☆52Updated 2 years ago
- R package designed to simplify structural variant analysis☆72Updated 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
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics☆103Updated 3 weeks ago
- ENCODE long read RNA-seq pipeline☆44Updated 2 years ago
- Comprehensive benchmark of structural variant callers☆45Updated 4 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆41Updated last week
- Data and information about the Polaris study☆53Updated 5 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- TIDDIT - structural variant calling☆73Updated 3 weeks ago
- Structural Variant Index☆71Updated 2 months ago
- Somatic structural variant caller for long-read data☆57Updated this week
- Documenting usage and experience with bioinformatic tools☆41Updated 9 years ago
- WisecondorX — An evolved WISECONDOR☆96Updated 5 months ago
- BAM Statistics, Feature Counting and Annotation☆146Updated 3 months ago
- Burden testing against public controls☆50Updated 11 months ago
- MIP based joint inference of copy number and rearrangement state in cancer whole genome sequence data.☆56Updated last week
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated this week
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 4 years ago
- Concordance and contamination estimator for tumor–normal pairs☆57Updated 3 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆69Updated this week
- Filtering and profiling of next-generational sequencing data using region-specific rules☆75Updated last year