Discover what you're missing with comprehensive and accessible genomic research: highlights from ASHG 2024

Oxford Nanopore is advancing precision health at scale by delivering richer data, higher speeds, and more accessible price points to enable clinical-grade genomic insights.

At the recent American Society of Human Genetics (ASHG) conference, the company’s industry education session brought together leaders in human genomics to share their research using the Oxford Nanopore platform.

The following highlights emphasise the platform’s clinical readiness and its potential to scale across diverse populations and applications.

Advancing population genetics and rare disease characterisation

Dr Carlos D. Bustamante of Galatea Bio, Inc. showcased the broard capabilities of Oxford Nanopore’s technology in advancing population genetics and clinical-grade disease characterisation.

His team’s work with the NIH-supported Consortium on Asthma among African-ancestry Populations (CAAPA) is using nanopore sequencing to identify the distinct genetic diversity within underrepresented communities, reinforcing the critical need for accessible technology to fill the gaps in existing reference datasets.

Carlos and his team also analysed Oxford Nanopore WGS reads from several familial hypercholesterolemia and retinopathy cases previously sequenced using short-read technology. The team was able to confirm variants from challenging cases across multiple variant types, including compound heterozygotes, double heterozygotes, and copy number variants (CNVs).

Importantly, long reads provided phasing to identify these challenging variants from the index cases alone, whereas previously multiple approaches were required including trio analyses.

In describing his experience using the Oxford Nanopore platform, Carlos likened it to “when the Hubble telescope unfolded and scientists saw new insights about space for the first time.” Nanopore sequencing has enabled Carlos and his team to detect significant genetic variations revealing data that had previously gone undetected with conventional technologies.

Benchmarking data from Carlos’ clinical studies further highlighted the effectiveness of the nanopore platform in identifying complex genetic variants, affirming its potential in characterising rare diseases across diverse populations. “We ground-truthed it, and Oxford Nanopore got it right,” Carlos said.

He shared his confidence in Oxford Nanopore’s clinical potential, explaining that his team is currently validating approximately 100 Mendelian cases. “So far, the system has been able to deal with all the cases thrown at it,” he said.

Uncovering transcriptomic complexity in retinal research

Dr. Rui Chen from the University of California, Irvine, presented his team’s groundbreaking work on retinal diseases using direct RNA sequencing.

In a study looking at scRNA from retinal mouse cells, he found high concordance between short reads and long reads across multiple cell types, including rare cells. Long-read sequencing offered a distinct advantage: 30% of the detected isoforms were novel. Additionally, approximately 70% of the genes with isoforms displayed multiple isoforms, which were differentially expressed across different cell classes and subclasses.

By profiling over 30,000 retinal cells, Rui's research uncovered novel transcript isoforms and complex alternative splicing events in single cells, offering new insights into the molecular mechanisms underlying retinal diseases.

The rich data provided by the Oxford Nanopore platform revealed transcriptomic complexities that traditional methods have missed, illustrating its potential for transformative impact in single-cell research and contributing to a deeper understanding of eye diseases.

Innovating at the edge of genomics

The session ended with a look into the future of Oxford Nanopore platforms, as Rosemary Sinclair Dokos, Chief Product and Marketing Officer, shared the latest advances in nanopore read accuracy, supported by read correction and assembly algorithms, which have enabled new applications including nanopore-only telomere-to-telomere assemblies and highly accurate Q50 whole human genomes.

“We never stop innovating at Nanopore,” said Rosemary, underscoring the platform’s ability to deliver comprehensive, high-quality genomic data that can support both in-depth research and scalable applications in diverse clinical settings. Broad multiomic capabilities such as methylation profiling, structural variant calling, and direct RNA sequencing make Oxford Nanopore’s platform a powerful tool for researchers who need accurate, accessible insights across a wide array of genomic applications.

With the release of Oxford Nanopore’s clinical-grade Q-Line this year on the GridION, and more Q-Line products set to roll out in 2025, the company is gearing up for greater clinical impact going forward.

Oxford Nanopore’s presence at ASHG 2024 showed that high-resolution genomic insights and broad accessibility are not mutually exclusive. Through its leading-edge platform, Oxford Nanopore is helping researchers tackle some of the most complex challenges in genomics, from global population studies to intricate single-cell analyses, moving the field closer to personalised and inclusive genomic-enabled clinical care.