Illumina / SMNCopyNumberCallerLinks
A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS
☆50Updated 2 years ago
Alternatives and similar repositories for SMNCopyNumberCaller
Users that are interested in SMNCopyNumberCaller are comparing it to the libraries listed below
Sorting:
- Data and information about the Polaris study☆54Updated 6 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- ☆54Updated 2 years ago
- A suite of tools for detecting expansions of short tandem repeats☆83Updated 2 years ago
- A tool for profiling long STRs from short reads☆103Updated 4 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 5 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆107Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated 2 years ago
- Read visualizer for structural variants☆84Updated 7 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated last week
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆82Updated 3 years ago
- Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics☆118Updated 5 months ago
- CN-Learn☆30Updated 5 years ago
- Tools for the analysis of structural variation in genomes☆81Updated last year
- ☆21Updated 4 years ago
- ☆35Updated 4 years ago
- Structural Variant Index☆75Updated 11 months ago
- SV caller for nanopore data☆92Updated 5 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- CNV screening and annotation tool☆25Updated 9 years ago
- Toolkit for calling structural variants using short or long reads☆113Updated 2 months ago
- WisecondorX — An evolved WISECONDOR