RausellLab / CNVxplorerLinks
A webtool for the clinical interpretation of CNVs in rare disease patients
☆12Updated 3 years ago
Alternatives and similar repositories for CNVxplorer
Users that are interested in CNVxplorer are comparing it to the libraries listed below
Sorting:
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Updated 10 months ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated last year
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- Clinical Variant Annotation Pipeline☆10Updated 5 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Updated last year
- 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
- miRge - microRNA alignment software for small RNA-seq data, now at v2.0☆27Updated 3 years ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- Aggregation and analyses of rare CNVs across diseases☆15Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- v2.x of the microassembly based somatic variant caller☆23Updated 5 months ago
- Using k-mers to call HLA alleles in RNA sequencing data☆23Updated 7 years ago
- Flexible Bayesian inference of mutational signatures☆38Updated 2 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆38Updated 5 years ago
- Genomic VCF to tab-separated values☆48Updated 2 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
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 5 years ago
- Somatic point mutation caller☆17Updated 9 years ago
- ☆18Updated 4 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Genera…☆16Updated last week
- Abismal is a mapper of FASTQ bisulfite-converted short reads (between 50 and 1000 bases) to a FASTA reference genome.☆20Updated 2 weeks ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆39Updated 2 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 5 years ago
- Filters for false-positive mutation calls in NGS☆34Updated 6 years ago
- Building the constrained coding regions (CCR) model☆16Updated 7 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
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- Msuite2: integrated DNA methylation data analysis toolkit with enhanced performance☆10Updated 11 months ago