Structural variation

This guide provides an introduction to performing targeted nanopore sequencing.

This guide introduces how to sequence human genomes with Oxford Nanopore, from the construction of new, highly complete reference assemblies to the comprehensive identification of variants.

Discover the Hereditary Cancer Panel workflow and streamline your precision oncology research.

This end-to-end workflow provides a scalable method to identify previously hidden and potentially pathogenic variants.

This end-to-end workflow overview provides a simple solution for detecting a wide range of tumour-specific variation in a single sequencing assay.

This end-to-end workflow introduces how to perform rapid whole-genome human variant and methylation calling from a blood research sample using high-output DNA sequencing on PromethION 24.

This end-to-end workflow provides a scalable solution for genome-wide analysis of genomic and epigenomic variants across a large cohort of human research samples with Oxford Nanopore sequencing.

In this application note, we present the design and performance of the Oxford Nanopore Hereditary Cancer Panel targeting 258 key genes implicated in cancer predisposition.

In this flyer, discover how to utilise the Oxford Nanopore Hereditary Cancer Panel to investigate 258 key genes associated with hereditary cancer risk.

In this flyer, discover Mahi-mahi: an analysis tool powered by Oxford Nanopore reads that captures and phases repeat expansion lengths, motifs, sequence interruptions, and methylation in a single assay.

In this flyer, find out how Oxford Nanopore provides gold-standard methylation sequencing and comprehensive variant calling in a single run — without chemical conversion.

Discover EPI2ME and how it provides data analysis for all levels of expertise

AbstractDiscover adaptive sampling: a simple, on-device enrichment method that requires no additional wet-lab prep and offers real-time data analysis for faster access to results.

Timely and comprehensive molecular classification is essential for therapeutic decision-making in pediatric oncology, yet current diagnostic workflows rely on multi-step, time- and resource-intensive testing. We present a standardized Oxford Nanopore Technologies whole-genome sequencing approach usi

Homologous recombination deficiency (HRD) affects breast, ovarian, pancreas and prostate cancers. Patients with HRD tumours can respond to poly ADP-ribose polymerase (PARP) inhibitors and platinum-based therapies. HRD results in a variety of single base, insertion and deletion, and large structural

What if targeted sequencing took place during sequencing itself, without the need for special library prep, PCR, or probes? In this demo, discover Adaptive Sampling: a unique, real-time targeted enrichment/depletion method that achieves just that.

In this case study, discover the benefits of adaptive sampling and how it has been applied to cancer research.

This repository contains a nextflow workflow for analysing variation in human genomic data.

This workflow calls variants from the alignment files of a paired tumor/normal sample.

Prof. Sebastian Lunke is the Head of Division of Genetics and Genomics at the Victorian Clinical Genetics Services. His team oversees the development and delivery of clinically accredited genetics and genomics laboratories in Australia, with a strong focus on translating...

Profiling the structure and epigenetics of D4Z4 arrays in FSHD using Oxford Nanopore sequencing

Highlighted publications showing how researchers are using Oxford Nanopore sequencing for pharmacogenomics (PGx) research.

Authors: Xinrong Xu, Liangliang Qiu, Minghui Zeng, Qifang He, Xiaodan Lin, Yuhua Lin, Xinyue Chen, Fuze Zheng, Zeling Zheng, Shuhui Zhu, Yali Hong, Feng Lin, Ning Wang, Minting Lin, Zhiqiang Wang

Authors: Yilei Fu, Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, Nikhita Gogate, George Weissenberger, Vanessa Vee, Han Yi, Heer H. Mehta, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Daniel G. Calame, Fritz J. Sedlazeck