Top topics at ESHG 2024

The European Society of Human Genetics (ESHG) conference of 2024 was nothing short of groundbreaking. This year's event brought together leading geneticists and researchers from around the globe to discuss the latest advancements in human genetics. The conference buzzed with excitement and innovation.

Join us as we delve into the highlights from this year's ESHG conference, exploring the impact of genetics in human health and medicine.

Topic 1: Data-rich results for clinical research

This year, the session ‘Long-read sequencing in the clinic’ was packed to the rafters. In this session, Danny Miller (University of Washington, US) highlighted the complexity and length of time it takes to complete the multiple tests required for current clinical diagnostics. The conclusion? Alternatives need to be explored.

Stephan Ossowski (University of Tübingen, Germany) shared how his team were doing just that, investigating the capacity of nanopore sequencing to characterise repeat expansions and methylation patterns to better understand disease.

Greg Elgar shared how Genomics England (UK) are evaluating emerging sequencing approaches for faster and more comprehensive clinical research. With the ultimate goal of creating the most advanced genomic healthcare system in the world, their projects will support Genome UK.

For this, they are developing a large dataset for functional genomic research, with nanopore sequencing being used to generate genomic, epigenomic, and transcriptomic data. In addition, due to the high accuracy of nanopore reads, his team are comparing and developing bioinformatic tools best suited for nanopore data, to ensure variant identification and methylation mapping can be optimised for future use.

You can learn more about Greg Elgar's research, presented during Oxford Nanopore's industry workshop, in the video below.

Topic 2: Assessing variants at scale

If we want to change the face of clinical care with genetics, we need to not only be able to rapidly and accurately identify variants, but we also need to know what they mean. In ESHG’s opening plenary, Kaitlin Samocha (Massachusetts General Hospital, US) highlighted that to accurately interpret genetic variation found in one person, we need to study the variation found in the broader human population.

We talked to Joris Vermeesch (KU Leuven, Belgium), who is sequencing 10,000 individuals in Belgium as part of the 1+ Million Genomes initiative.

‘We are doing this in large part with long-read sequencing technologies. Why? Well, for the first time we need to start mapping the population variation of the 10% of the genome which was not yet mapped properly in the first generation of reference sequences… We need to understand the variation there and we know that variation is huge, so we will need large numbers to map those. But we also need to understand epigenome variation…’

Based on the reference maps produced, the team will look for which genetic outliers could indicate disease state, allowing researchers to decipher mechanisms of disease and possible cures.

Brynja Sigurpálsdóttir (deCODE genetics, Iceland) also spoke about her work on large-scale methylation analysis. Using nanopore sequencing on 7,179 blood samples, her team identified genetic variants associated with methylation-depleted regions, called allele-specific methylation quantitative trait loci (ASM-QTLs).

There were multiple cases where ASM-QTLs were in strong linkage disequilibrium with disease-associated variants. Following this foundational study, the team hope to delve further into how methylation patterns can be used to predict phenotypes and solve clinical cases — goals impossible to achieve without large datasets.

Topic 3: Representing human diversity

Europeans are currently overwhelmingly represented in the large genetic datasets available. This is a barrier to the access of precision medicine for all. In the ‘Genomics in Africa’ session at ESHG, Ananyo Choudhury (University of the Witwatersrand, South Africa) highlighted that the African population has on average 20% more variation than Europeans, and that without these individuals represented in genomic databases, we have an incomplete picture of human diversity.

With an accessible, scalable platform, Oxford Nanopore could provide solutions to the barriers limiting genetic diversity in research. Read more about population genomics with nanopore sequencing, and explore how we can overcome this obstacle.