nf-core / raredisease
Call and score variants from WGS/WES of rare disease patients.
☆100Updated this week
Alternatives and similar repositories for raredisease:
Users that are interested in raredisease are comparing it to the libraries listed below
- A small-RNA sequencing analysis pipeline☆84Updated last week
- Differential abundance analysis for feature/ observation matrices from platforms such as RNA-seq☆78Updated last week
- Variant Calling Pipeline Using GATK4 and Nextflow☆54Updated 2 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆159Updated 8 months ago
- A comprehensive cancer DNA/RNA analysis and reporting pipeline☆69Updated this week
- A suite of tools for detecting expansions of short tandem repeats☆80Updated last year
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆147Updated last week
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆144Updated last week
- Relevant papers for CNV and SV approaches☆94Updated 6 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆69Updated 8 months ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆85Updated 3 months ago
- Analysis of Chromosome Conformation Capture data (Hi-C)☆99Updated last week
- GATK RNA-Seq Variant Calling in Nextflow☆133Updated 2 years ago
- ASCAT R package☆180Updated last month
- An R package to Identify, Annoatate and Visialize Isoform Switches with Functional Consequences (from RNA-seq data)☆112Updated 3 months ago
- ☆122Updated this week
- Jasmine: SV Merging Across Samples☆211Updated 4 months ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 2 months ago
- Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads☆108Updated 2 years ago
- Long read production pipelines☆145Updated this week
- Nextflow pipeline for analysis of direct RNA Nanopore reads☆102Updated last week
- Workflows for converting between sequence data formats☆38Updated 3 years ago
- Assembly and intrahost/low-frequency variant calling for viral samples☆137Updated last week
- igv.js standalone page generator and automatic configuration to view bam/cram/vcf/bed. "working in under 1 minute"☆126Updated last year
- FEELnc : FlExible Extraction of LncRNA☆87Updated 7 months ago
- Nextflow RNA-Seq Best Practice analysis pipeline, used at the SciLifeLab National Genomics Infrastructure.☆51Updated 6 years ago
- Nanopore RNA-Seq data from the Singapore Nanopore-Expression Project☆128Updated 3 months ago
- Julia package powering VIVA, our tool for visualization of genomic variation data. Manual:☆86Updated last year
- JAFFA is a multi-step pipeline that takes either raw RNA-Seq reads, or pre-assembled transcripts, then searches for gene fusions☆93Updated 8 months ago
- Algorithm to implement Fraction and Copy number Estimate from Tumor/normal Sequencing.☆150Updated last year