nf-cmgg / structural
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
☆19Updated last week
Alternatives and similar repositories for structural:
Users that are interested in structural are comparing it to the libraries listed below
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- This is the Haplotypo repository☆20Updated 9 months ago
- ☆16Updated last month
- Structural variant pipeline☆17Updated 4 years ago
- Phase reads, assemble haplotypes and detect SVs☆19Updated 4 years ago
- ☆14Updated 8 months ago
- Population-wide Deletion Calling☆35Updated 5 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 7 months ago
- Sample Contamination Estimate from VCF☆19Updated 3 months ago
- A wrapper for calling small variants from human germline high-coverage single-sample Illumina data☆13Updated 5 years ago
- ☆13Updated last year
- Teaching modules for Human Genome Variation Lab.☆20Updated 7 months ago
- ☆12Updated 3 years ago
- Towards fast and accurate SNP genotyping from whole genome sequencing data for bedside diagnostics.☆20Updated 6 years ago
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- ☆11Updated last year
- Hidden Markov Model based Copy number caller☆20Updated 4 months ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- Accurate Typing of Human Leukocyte Antigen (HLA) by Oxford Nanopore Sequencing☆15Updated 7 years ago
- ☆9Updated 2 years ago
- Expedite large-scale identification of CNVs within predefined genomic regions. Online app available for those with GP2 Tier 2 Access.☆10Updated 3 months ago
- Pan gGnome Viewer☆10Updated last year
- Split a BAM file by haplotype support☆16Updated 7 years ago
- Functions to compare a SV call sets against a truth set.☆29Updated 10 months ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆23Updated 11 months ago
- A long-read analysis toolbox for cancer and population genomics☆21Updated 2 weeks ago
- CLI to automate Nextflow pipeline testing☆12Updated 3 months ago
- A tool set to assess the quality of the per read phasing and reduce the errors.☆12Updated 4 years ago
- Pangenome graphs visualisation, distance computing, reconstruction of sequences and other utility functions☆33Updated last month