TranslationalBioinformaticsIGTP / CNVbenchmarkeRLinks
Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data
☆14Updated last year
Alternatives and similar repositories for CNVbenchmarkeR
Users that are interested in CNVbenchmarkeR are comparing it to the libraries listed below
Sorting:
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Updated 10 months ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 7 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data☆29Updated 3 years ago
- a parallel R package for detecting copy-number alterations from short sequencing reads☆23Updated 4 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 5 years ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆17Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 5 months ago
- Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.☆14Updated 6 years ago
- Example datasets for CNVkit (http://github.com/etal/cnvkit)☆23Updated 7 years ago
- CADD-SV – a framework to score the effect of structural variants☆18Updated last week
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated last year
- DriverPower☆26Updated last year
- Integrative analysis of complex structural variants☆22Updated 5 years ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 3 years ago
- ☆25Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 3 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 6 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated last year
- RNAseq analysis with Hisat2, stringtie, and ballgown☆17Updated 6 years ago
- Clinical Variant Annotation Pipeline☆10Updated 5 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆18Updated 2 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
- Codes and Data for FFPEsig manuscript☆17Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago