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☆29Updated 4 months ago
- a Shiny/R application to view and annotate copy number variations☆28Updated 2 years ago
- Framework to benchmark algorithms when detecting germline copy number variations (CNVs) from NGS data☆14Updated 6 months ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 6 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- 📊Evaluating, filtering, comparing, and visualising VCF☆28Updated 2 years ago
- Advanced plotting functions for CNV data generated by CNV-Seq and Control Freec☆13Updated 4 years ago
- Clinical Variant Annotation Pipeline☆10Updated 5 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- CADD-SV – a framework to score the effect of structural variants☆14Updated 3 months ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆17Updated last year
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year
- BigWig manpulation tools using libBigWig and htslib☆29Updated 11 months ago
- Automated human exome/genome variants detection from FASTQ files☆22Updated 3 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 5 months ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- ☆15Updated last year
- Genomic VCF to tab-separated values☆47Updated 2 years ago
- Flexible Bayesian inference of mutational signatures☆35Updated 2 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Splice junction analysis and filtering from BAM files☆40Updated 3 years ago
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 3 years ago
- Multi-sample cancer phylogeny reconstruction☆35Updated 7 years ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆35Updated last year
- v2.x of the microassembly based somatic variant caller☆24Updated last month
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆37Updated 3 years ago