PubuduSaneth / cnvScanLinks
CNV screening and annotation tool
☆25Updated 9 years ago
Alternatives and similar repositories for cnvScan
Users that are interested in cnvScan are comparing it to the libraries listed below
Sorting:
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- This WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and In…☆55Updated 5 years ago
- A suite of tools for detecting expansions of short tandem repeats☆83Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- ☆54Updated 2 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆50Updated 2 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 5 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆68Updated 2 years ago
- Data and information about the Polaris study☆54Updated 6 years ago
- Burden testing against public controls☆50Updated last year
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- WisecondorX — An evolved WISECONDOR☆107Updated 2 months ago
- QDNAseq package for Bioconductor☆53Updated last year
- A tool for profiling long STRs from short reads☆101Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated 2 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 2 months ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆74Updated 4 months ago
- Script to convert GTC/BPM files to VCF☆47Updated last month
- 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
- CN-Learn☆30Updated 5 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆72Updated 7 years ago
- ⛏ HLA predictions from NGS shotgun data☆55Updated 5 months ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆56Updated 5 years ago
- Sentieon DNAseq☆23Updated 4 years ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated 3 months ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆46Updated last year
- phasing and Allele Specific Expression from RNA-seq☆116Updated last year