Illumina / Polaris
Data and information about the Polaris study
☆53Updated 5 years ago
Alternatives and similar repositories for Polaris:
Users that are interested in Polaris are comparing it to the libraries listed below
- ☆39Updated 9 months ago
- Structural Variant Index☆71Updated 2 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 5 months ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆75Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated 2 months ago
- Burden testing against public controls☆50Updated 11 months ago
- A suite of tools for detecting expansions of short tandem repeats☆80Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆96Updated 2 years ago
- CNV screening and annotation tool☆24Updated 8 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- ☆52Updated 2 years ago
- QDNAseq package for Bioconductor☆49Updated 6 months 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
- CN-Learn☆29Updated 5 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆104Updated 4 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Read visualizer for structural variants☆81Updated 6 years ago
- Thousand Variant Callers Project Repository☆71Updated 5 years ago
- R package designed to simplify structural variant analysis☆72Updated 3 years ago
- A tool for profiling long STRs from short reads☆94Updated 3 years ago
- Concordance and contamination estimator for tumor–normal pairs☆57Updated 3 months ago
- ☆45Updated 5 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆48Updated 4 years ago
- TIDDIT - structural variant calling☆74Updated last month
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆27Updated last year
- A tool for visualizing alignments of reads in regions containing tandem repeats☆82Updated last year
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆31Updated 8 months ago