A nextflow pipeline for calling exome CNVs

Python deployment tool for bespoke image curation projects, oriented toward scientific projects. Please cite https://academic.oup.com/gigascience/article/7/7/giy064/5026174

A software for calculating telomere length

A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads

Population-based detection of structural variation from High-Throughput Sequencing.

Plot structural variant signals from many BAMs and CRAMs

Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.

Interactive multiscale visualization for structural variation in human genomes

FindCSV: A long-read based method for detecting complex structural variations

Deep learning-based structural variant filtering method

Now hosted at https://github.com/HCL-HUBL/KILDA

Deep learning framework for SV calling and genotyping

a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads

Annotation and Ranking of Structural Variation

A bioinformatics best-practice analysis pipeline for the analysis of shallow whole genome sequencing (sWGS) data for the identification of copy number alterations (CNAs).

Expedite large-scale identification of CNVs within predefined genomic regions. Online app available for those with GP2 Tier 2 Access.

KILDA (KIv2 Length Determined from a kmer Analysis) provides an alignment-free estimation of the number of KIV2 (Kringle IV type 2) repeats from FASTQ files.

don't get DUP'ed or DEL'ed by your putative SVs.

MEGAnE

A local-haplotagging-based small and structural variant caller

Chromosome visualization for the web

Grammar of Scalable Linked Interactive Nucleotide Graphics

Complex structural variant visualization for HiFi sequencing data

SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel

Code written for the long-read 1KG project