Our top picks of ASHG 2025

As the annual meeting of the American Society for Human Genetics – this year held in Boston (MA, USA) from 14–18 October – approaches, we have compiled our top picks of the sessions from each day of the conference proper.

The meeting starts with 2 days of pre-event workshops, courses and working groups on everything from career development to a ‘how to’ on genotype imputation, all building up to the presidential address from Sarah Tishkoff (University of Pennsylvania, PA, USA) at 4.15 PM on Tuesday, 14 October, in the Level 3 Ballroom. From then on, the same space hosts each of the Plenary sessions at 5 PM each day for the rest of the event and, as each of these are by definition highlights of the conference, we haven’t included them below.

Make sure not to miss the industry, poster, networking and professional education sessions every afternoon from noon onwards. And now, on with our top picks!

Wednesday, 15 October

Beyond transcriptomics: can imaging bridge the gap in variant interpretation?

When: 8:30–10:00 AM

Where: Room 210AB/Level 2

While transcriptomic techniques have provided researchers with a valuable tool with which to explore an essential step in the journey from a genetic variant’s occurrence to its impact on a coded protein’s function, insights from this approach alone can prove rather one dimensional. This session will highlight how high-content imaging can help provide richer context, enabling researchers to move from the single-gene perspective offered by expression quantitative trait locus (eQTL) studies to the exploration of GWAS variants, and how they can act in concert to influence effector cell function.

Get practical tips on how to handle assay development across diverse cell types, applications in immune, metabolic and neurodevelopmental traits, and advances in machine learning for imaging-based genetic analysis.

Loop logic: 3D chromatin architecture and functional genomics

When: 10:45–11:45 AM

Where: Room 206AB/Level 2

Following on from the previous session, this collection of presentations will dive into the impact that the 3D conformation of a cell’s genome can have on genetic regulation, cell function and the conversion of a gene variant into an alternative, or even malign, action. With a focus on the computational and deep learning approaches now being utilized to explore both model chromatin interactions and map the location of disease-associated genetic variants, alongside a detailed exposé of the role of chromatin conformation, enhancer–promoter communication and more, this session should not be missed.

Advances in long-read sequencing studies

When: 1:30–2:30 PM

Where: Room 210C/Level 2

The advent of long-read sequencing germinated a litany of new capabilities in sequencing, from the simultaneous identification of epigenetic markers to the exploration of large structural variants. Perhaps one of the greatest applications of this technique has been in the generation of vast population-wide data sets, with more accurate, reliably assembled genomes than ever before.

This session will reveal recent variants identified in African American individuals from the All of Us program, new candidate genes in Parkinson’s disease, a novel deep-learning framework for structural-variant discovery from long-read sequencing data, and how to effectively share valuable rare disease and multiomic data with a key consortium of relevant researchers.

Thursday, 16 October

Artificial intelligence and machine learning tools reshaping modern genomics

When: 8:30–10:00 AM

Where: Ballroom West/Level 3

There had to be one about AI in here, and this one seemed the most comprehensive, so here you go. This session tackles both sides of analysis/discovery on the AI genomics coin. Get a rundown of the hottest machine learning approaches in genomics, how to integrate AI into your experimental designs and the limits (would you believe it!) of these approaches in the realm of genomics.

In situ insight: uncovering cellular regulation with spatial-omics

When: 10:45–11:45 AM

Where: Room 258ABC/Level 2

This season’s à la mode technique; find out what all the fuss is about as this session details emerging spatial-omic technologies and the how they have opened our eyes to new aspects of cellular organization and regulation within intact tissues.

Discover how researchers are using new tools to reconstruct 3D molecular structure from sparse data, get revelations from cross-species spatial profiling studies in xenotransplant models, conduct mitochondrial lineage tracing and subcellular-resolution mapping of immune–stromal interactions in inflammatory disease.  What’s not to like?

Shaking the evolutionary tree: multi-species studies to understand human biology

When: 1:30–2:30 PM

Where: Room 205ABC/Level 2

Don’t work hard, work smart. Likelihood is evolution has worked out the solution to your problem already and if you think that you’re smarter and more creative than the one of the world’s most renowned scientific theories then congratulations, you must be on track for tenure. This session dives into evolutionary and developmental perspectives on gene regulation by examining how genetic control mechanisms vary across species and cell types.

Unlock new techniques to use in the investigation of non-human genomes in a series of talks that will cover comparative genomics between humans and other primates, single-cell multiomic investigations of regulatory conservation in mammalian brains, metabolic pathways underlying cellular homeostasis, and tissue-specific gene expression patterns observed throughout primate development.

Friday, 17 October

The cell village: a platform for population-scale genetic studies in a dish

When: 8:30–10:00 AM

Where: Room 205ABC/Level 2

It takes a village to raise a child and also, occasionally, to produce contextualized genetic insights. Cell villages, or ‘village in a dish’ models, are produced by co-culturing genetically diverse cell lines in a shared in vitro environment, offering an experimental platform for investigating genetic, molecular and phenotypic heterogeneity under baseline conditions and in response to external stimuli, like stress and toxicity. Not only streamlining the process from variant identification to mechanistic insight, this approach is also promising for clarifying relationships between genotype and phenotype in QTL mapping, pharmacogenomics and functional phenotyping.

Find out how to construct your own cell village, interrogate it and identify genetic variants associated with cell differentiation in this session revealing breakthroughs in disease modeling and functional genomics as enabled by these technologies.

Unraveling disease mechanisms through multi-omics: from genetics to microbiome and chromatin regulation

When: 10:45–11:45 AM

Where: Room 210AB/Level 2

Inflammatory Bowel Disease (IBD): half my friends have it and seemingly none of them have been able to obtain a satisfactory explanation for why, how they can manage it nor if it will ever be curable. This session explores how multi-omics approaches are trying to change that, including insights into the use of GWAS, eQTL, protein QTL, CRISPR screens, microbiome profiling and long-read sequencing in the study of IBD.

Recent discoveries made using these techniques – which link genetic variants to disease mechanisms through cell-type-specific regulation, host–microbiome interactions and chromatin state – and their subsequent implications for therapeutic target discovery will be discussed here.

Linking genetic variation to molecular, cellular and phenotypic function

When: 1:30–2:30 PM

Where: Room 205ABC/Level 2

Roaming through studies that integrate pangenomes, prime editing and multimodal single-cell profiling to uncover genetic constraints, cell-type-specific regulation and inter-individual epigenetic differences underlying disease, this session explores the approaches used to interpret epigenetic mechanisms in complex diseases and to spot genetic associations between gene variants and disease development. There will also be some detail on how to effectively use RNA-seq alignment for structural variant detection and an exposé of the impact of genetic, environmental and socioeconomic factors on chromatin, methylation and immune function.

Saturday, 18 October

End results-telomere resolution and involvement in genomic instability

When: 10:00–11:00 AM

Where: Room 205ABC/Level 2

While telomeres valiantly protect our genome and play a vital role in chromosomal segregation during cell division, it’s good to see researchers returning the favor with thorough investigations of their function and how they can malfunction. This session will reveal the methods used to identify telomere-mediated instability, its genomic consequences and the mediators driving or fighting this instability.

All that and a bag of variants: functional genomics of brain disorders

When: 8:30–9:30 AM

Where: Room 210AB/Level 2

Functional genomics in the brain? Sign me up! Discover the latest advanced functional genomics approaches to understand how genetic variants alter cell-type-specific pathways in brain disorders. Learn how to evaluate voxel-level (the 3D version of a pixel) genetic associations to identify spatially specific links between brain structure and neurological disorders.