TranslationalBioinformaticsIGTP / CNVbenchmarkeRLinks
Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data
☆14Updated 11 months ago
Alternatives and similar repositories for CNVbenchmarkeR
Users that are interested in CNVbenchmarkeR are comparing it to the libraries listed below
Sorting:
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 9 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 5 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 3 months ago
- ☆26Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- DRAGEN Tumor/Normal workflow post-processing☆24Updated 2 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated last year
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- a parallel R package for detecting copy-number alterations from short sequencing reads☆23Updated 4 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆18Updated last year
- Filter and prioritize fusion calls☆20Updated last year
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Updated 5 months ago
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants☆22Updated 5 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
- ☆18Updated 4 years ago
- Codes and Data for FFPEsig manuscript☆17Updated last year
- ☆14Updated last year
- BAMixChecker: A fast and efficient tool for sample matching checkup☆15Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆28Updated 3 years ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago