The final speaker of the 2026 Mutational Scanning Symposium is Melissa Call from WEHI (Walter and Eliza Hall Institute of Medical Research). Her talk is covering how mutational profiling of SARS-CoV-2 PLpro exposes inhibitor escape routes.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
Great to present our work on MAVEs as part of www.ebi.ac.uk/perturbation... at #VariantEffect26 - always a very enjoyable meeting!
Many thanks to all our MSS 2026 sponsors. It's great to have you here!
At the podium now is Joel Geoghegan from Illumina.
#VariantEffect26
Our last speaker in this session is Linda Wijaya of The Kids Research Institute Australia and The University of Western Australia, whose talk is about unraveling the RASopathy Syndromes using iPSC-derived neural disease modeling.
#VariantEffect26
#DiseaseModeling
#AtlasOfVariantEffectsAlliance
Up next on the final day of MSS 2026 is Yu-Jen Lin of the University of California, Berkeley. She's giving a talk on CAGI 7 ARSA missense prediction assessment.
#VariantEffect26
#MissenseVariants #CAGI7
#AtlasOfVariantEffectsAlliance
On stage now is Alistair Dunham of the Wellcome Sanger Institute with a talk about the standardization and joint analysis of 2041 MAVEs.
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
We're back with Christopher Hahn from SA Pathology and the University of South Australia, on the topic of deep mutational scanning to measure the transactivational effect of GATA2 and ERG variants to benefit clinical interpretation.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
Our final speaker before morning coffee is Doug Fowler from the University of Washington.
His talk details pathway-scale variant effect mapping in human cells with LABEL-seq.
#VariantEffect26
#LABELseq ##DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Next to the stage is Jun Yang of St. Jude Children's Research Hospital - ALSAC. His presentation details MAVE-informed protein language models for predicting pharmacokinetics variant function at scale.
#VariantEffect26
#MAVEs #ProteinLanguageModels
#AtlasOfVariantEffectsAlliance
We're now joined by Max Stammnitz from the Centre for Genomic Regulation (CRG) in Barcelona. His presentation is about the genetic architecture of allosteric plant hormone receptors.
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Taking the stage now is Mark Dawson of the Peter MacCallum Cancer Centre. His talk is about understanding human pathology with base editing at single-cell resolution.
#VariantEffect26
#BaseEditing
#AtlasOfVariantEffectsAlliance
Yesterday evening, we enjoyed a fantastic poster session at MSS 2026. There was a real buzz with lots of great conversations!
#VariantEffect26
Opening the final day of MSS 2026 is Maitreya Dunham from the University of Washington. Her keynote is entitled, 'From ARS1 to ZWF1: some adventures in deep mutational scanning'.
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Today's final speaker is Polina Polunina from the University of Freiburg. Her presentation today is entitled, 'Modeling viral evolution as sequence transitions: a transformer approach using time-resolved SARS-CoV-2 spike data'.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
Next to speak is Xinyu Wu from WEHI (the Walter and Eliza Hall Institute of Medical Research). His talk discusses the elucidation of distinct conformations in thrombopoietin receptor activation.
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Amelie Stein joins us now from the University of Copenhagen (Københavns Universitet) to deliver a talk about variant consequences in context.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
Now, we welcome Rosa De Santis of the Telethon Institute of Genetics and Medicine (TIGEM) to the podium. Her talk covers bulk to single-cell: benchmarking analytical tools for deep mutational scanning experiments.
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Speaking next on high resolution functional assessment of SMAD4 variants is Jacob Purcell of Monash University.
#VariantEffect26
#MAVE
#AtlasOfVariantEffectsAlliance
Taking the stage now is Guillaume Diss of the Friedrich Miescher Institute for Biomedical Research. His presentation is about the genetic architecture of protein interaction domain families.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
First to present this afternoon is Jian-Rong Yang of Sun Yat-sen University, Guangzhou. His talk is entitled, 'Phenotypic mutations in collision: negative epistasis between transcription errors and translation errors revealed by deep mutational scanning.
#VariantEffect26
Everyone's had lunch and chance to begin exploring the posters. So, now we return to the talks!
#VariantEffect26
Many thanks to all our MSS 2026 sponsors. It's great to have you here!
At the podium now is Daniel Zimmerman from Ambry Genetics.
#VariantEffect26
We welcome Lorenzo Vaccaro of the Telethon Institute of Genetics and Medicine (TIGEM) to the stage now. His talk discusses genotype-phenotype single-cell transcriptomics for massively parallel assessment of genetic variants.
#VariantEffect26
#RNAseq
#AtlasOfVariantEffectsAlliance
Now, Vanessa Burns from the Wellcome Sanger Institute takes the stage to speak about saturation genome editing (SGE) to clarify variant effects within 5' UTRs of neurodevelopmental disorder (NDD) genes.
#VariantEffect26
#SGE #NDD
#AtlasOfVariantEffectsAlliance
Next up is Omar Tariq from the University of British Columbia talking about tfGPRA -- a high-throughput platform for transcription factor characterization.
#VariantEffect26
#MPRAs
#AtlasOfVariantEffectsAlliance
We're back and Nilah Ioannidis of the University of California Santa Cruz is at the podium with her presentation, 'Modeling the impact of personal genome variation on molecular phenotypes'.
#VariantEffect26
#Genomics #Modeling
#AtlasOfVariantEffectsAlliance
Before we break for morning coffee, Lea Starita from the University of Washington takes the stage to talk about how novel calibration methods are driving resolution of variants of unknown significance (VUS).
#VariantEffect26
#MAVEs #VAMPseq #SGE #MPRAs
#AtlasOfVariantEffectsAlliance
Sujatha Jagannathan from the University of Colorado Anschutz School of Medicine is next to take the floor in the first session. Her talk is focused on mapping of nonsense-mediated mRNA decay.
#VariantEffect26
#NMD #Mapping
#AtlasOfVariantEffectsAlliance
Staying on the cardiology theme, we're now hearing from Andrew Glazer of the Vanderbilt University Medical Center. His talk details three multimedia assays of SCN5A variant function informing arrhythmia risk prediction.
#VariantEffect26
#MAVEs #cardiology
#AtlasOfVariantEffectsAlliance
Next to take the stage is Chai Ann (Andy) Ng, of the Victor Chang Cardiac Research Institute. His talk discusses the integration of MAVE and patch clamp data to improve classification and risk prediction in KCNH2-LQTS.
#VariantEffect26
#MAVEs #Cardiology
#AtlasOfVariantEffectsAlliance
