TranslationalBioinformaticsIGTP / CNVbenchmarkeRLinks
Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data
☆14Updated 6 months ago
Alternatives and similar repositories for CNVbenchmarkeR
Users that are interested in CNVbenchmarkeR are comparing it to the libraries listed below
Sorting:
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 11 months ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- DriverPower☆26Updated 5 months ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 4 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- Filter and prioritize fusion calls☆20Updated 8 months ago
- ☆18Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- QDNAseq bin annotation for hg38☆15Updated 2 months ago
- Combined mutation recurrence and functional impact to identify coding and non-coding cancer drivers☆15Updated 6 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 6 years ago
- a parallel R package for detecting copy-number alterations from short sequencing reads☆23Updated 3 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- mtDNA-Server 2: A web-service and Nextflow pipeline for mitochondrial genomes☆15Updated 5 months ago
- All-FIT - Allele-Frequency-based Imputation of Tumor Purity☆17Updated 5 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- knowledge-based genotyping of cancer hotspots from the tumor BAM files☆21Updated 3 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- ☆22Updated 6 months ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year