Where are our hidden secrets in genomics, and why should we care? | LC26 Studio

What are we still missing in the human genome — and what will it take to find out? In this preview session from the 12th London Calling conference at Old Billingsgate, London, three leading genomics researchers explore the frontiers of what we don't yet know and why it matters. Marcelo Kaufman from Hospital Ramos Mejía in Argentina opens the conversation on the unsolved challenges in neurogenetics, including repeat expansions, complex structural rearrangements, and the need to think beyond single-gene, single-phenotype models. Koen Van Gassen from UMC Utrecht shares how his team has moved to whole-genome sequencing for all patients, the unexpected prominence of non-coding variants that has followed, and the collaborative bioinformatics work underway with Oxford Nanopore Technologies to make complex data clinically interpretable. Ania Piskoz from Cancer Research UK at the University of Cambridge discusses the mutational processes driving chromosomal instability in ovarian and breast cancer, and how long-read sequencing is opening up research into isoform-level transcriptomics, tumour microenvironment mapping, and spatial genomics at single-cell resolution. Together they tackle the big questions in multi-omics data integration — from combining epigenomic, transcriptomic, and methylation data in a single workflow, to using episigns to accelerate variant classification in research settings. They also discuss what it will take to build 3D maps of tumours, better predict treatment response from genomic signatures, and ultimately bridge the gap between bench discovery and future translational applications. Oxford Nanopore Technology is a research-use-only (RUO) platform. The researchers featured here discuss how long-read, real-time sequencing could in future support the translation of multi-omic discoveries toward clinical workflows. Subscribe for more from London Calling — the annual conference for nanopore sequencing science. Learn more at nanoporetech.com #Genomics #LongReadSequencing #OxfordNanopore #MultiOmics #WholeGenomeSequencing #Neurogenetics #CancerGenomics #Methylation #Epigenomics #LondonCalling #Bioinformatics #SequencingTechnology #Transcriptomics #SpatialGenomics #RepeatExpansion