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
His talk details pathway-scale variant effect mapping in human cells with LABEL-seq.
#VariantEffect26
#LABELseq ##DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
March 27, 2026 at 12:04 AM
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
His talk details pathway-scale variant effect mapping in human cells with LABEL-seq.
#VariantEffect26
#LABELseq ##DeepMutationalScanning
#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
#VariantEffect26
#NMD #Mapping
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 11:47 PM
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
#VariantEffect26
#NMD #Mapping
#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
#VariantEffect26
#SGE #NDD
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 1:25 AM
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
#VariantEffect26
#SGE #NDD
#AtlasOfVariantEffectsAlliance
Amelie Stein joins us now from the University of Copenhagen (Københavns Universitet) to deliver a talk about variant consequences in context.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 5:10 AM
Amelie Stein joins us now from the University of Copenhagen (Københavns Universitet) to deliver a talk about variant consequences in context.
#VariantEffect26
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#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
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
March 27, 2026 at 1:07 AM
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
#VariantEffect26
#MAVEs
#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
#VariantEffect26
#MAVEs #cardiology
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 11:25 PM
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
#VariantEffect26
#MAVEs #cardiology
#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
#VariantEffect26
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 3:54 AM
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
#VariantEffect26
#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
#VariantEffect26
#MAVEs #Cardiology
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 11:24 PM
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
#VariantEffect26
#MAVEs #Cardiology
#AtlasOfVariantEffectsAlliance
Day 2 of The Mutational Scanning Symposium at the The Aikenhead Centre for Medical Discovery in Melbourne, Australia. We're looking forward to another day of fantastic presentations and posters!
#VariantEffect26
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 10:10 PM
Day 2 of The Mutational Scanning Symposium at the The Aikenhead Centre for Medical Discovery in Melbourne, Australia. We're looking forward to another day of fantastic presentations and posters!
#VariantEffect26
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#AtlasOfVariantEffectsAlliance
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
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 10:17 PM
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
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
Speaking next on high resolution functional assessment of SMAD4 variants is Jacob Purcell of Monash University.
#VariantEffect26
#MAVE
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MAVE
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 4:11 AM
Speaking next on high resolution functional assessment of SMAD4 variants is Jacob Purcell of Monash University.
#VariantEffect26
#MAVE
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MAVE
#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
#VariantEffect26
#MAVEs #VAMPseq #SGE #MPRAs
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 11:58 PM
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
#VariantEffect26
#MAVEs #VAMPseq #SGE #MPRAs
#AtlasOfVariantEffectsAlliance
Opening the Symposium today is Prof. Fumitaka Inoue of Kyoto University, with his talk, 'Deciphering human functional genome using Massively Parallel Reporter Assays'.
#VariantEffect26
#Genomics #MPRA
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#Genomics #MPRA
#AtlasOfVariantEffectsAlliance
March 24, 2026 at 11:43 PM
Opening the Symposium today is Prof. Fumitaka Inoue of Kyoto University, with his talk, 'Deciphering human functional genome using Massively Parallel Reporter Assays'.
#VariantEffect26
#Genomics #MPRA
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#Genomics #MPRA
#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
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 11:31 PM
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
#VariantEffect26
#DeepMutationalScanning
#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
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 5:41 AM
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
#VariantEffect26
#DeepMutationalScanning
#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
#VariantEffect26
#Genomics #Modeling
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 12:45 AM
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
#VariantEffect26
#Genomics #Modeling
#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
#VariantEffect26
#MAVEs #ProteinLanguageModels
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 11:52 PM
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
#VariantEffect26
#MAVEs #ProteinLanguageModels
#AtlasOfVariantEffectsAlliance
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
#VariantEffect26
#RNAseq
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 1:47 AM
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
#VariantEffect26
#RNAseq
#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
#VariantEffect26
#DeepMutationalScanning
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 4:26 AM
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
#VariantEffect26
#DeepMutationalScanning
#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
#VariantEffect26
#AtlasOfVariantEffectsAlliance
March 27, 2026 at 12:44 AM
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
#VariantEffect26
#AtlasOfVariantEffectsAlliance
One month to go until we open the doors on #MSS26 and we can't wait to see you there! Check out the program and register at: www.mss2026.org
#MSS26 #MAVE #Genomics #PrecisionMedicine #Symposium #AtlasOfVariantEffectsAlliance
#MSS26 #MAVE #Genomics #PrecisionMedicine #Symposium #AtlasOfVariantEffectsAlliance
February 25, 2026 at 9:36 AM
One month to go until we open the doors on #MSS26 and we can't wait to see you there! Check out the program and register at: www.mss2026.org
#MSS26 #MAVE #Genomics #PrecisionMedicine #Symposium #AtlasOfVariantEffectsAlliance
#MSS26 #MAVE #Genomics #PrecisionMedicine #Symposium #AtlasOfVariantEffectsAlliance
Opening the second day of talks at MSS 2026 is Prof. Matthew Hurles of the Wellcome Sanger Institute. His talk, 'Scaling MAVEs: Is this the end of the beginning?' discusses progress in efforts to deliver MAVEs at scale.
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 10:21 PM
Opening the second day of talks at MSS 2026 is Prof. Matthew Hurles of the Wellcome Sanger Institute. His talk, 'Scaling MAVEs: Is this the end of the beginning?' discusses progress in efforts to deliver MAVEs at scale.
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MAVEs
#AtlasOfVariantEffectsAlliance
@tylernstarr.bsky.social of the University of Utah recently presented for the AVE Virology Interest Group on his latest research into SARS-CoV-2 variants using deep mutational scanning.
Watch now and subscribe: youtu.be/hQ6ArFcOwPA
#AtlasOfVariantEffectsAlliance
Watch now and subscribe: youtu.be/hQ6ArFcOwPA
#AtlasOfVariantEffectsAlliance
“Deep mutational scanning of recent SARS-CoV-2 variants" - Tyler Starr
YouTube video by Variant Effects
youtu.be
June 8, 2026 at 4:23 PM
@tylernstarr.bsky.social of the University of Utah recently presented for the AVE Virology Interest Group on his latest research into SARS-CoV-2 variants using deep mutational scanning.
Watch now and subscribe: youtu.be/hQ6ArFcOwPA
#AtlasOfVariantEffectsAlliance
Watch now and subscribe: youtu.be/hQ6ArFcOwPA
#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
#VariantEffect26
#MPRAs
#AtlasOfVariantEffectsAlliance
March 26, 2026 at 1:14 AM
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
#VariantEffect26
#MPRAs
#AtlasOfVariantEffectsAlliance
Next up at MSS 2026 comes Benjamin Capodanno of the Brotman Baty Institute, whose talk on MaveMD discusses this functional data resource for genomic medicine.
#VariantEffect26
#MaveMD
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MaveMD
#AtlasOfVariantEffectsAlliance
March 25, 2026 at 4:02 AM
Next up at MSS 2026 comes Benjamin Capodanno of the Brotman Baty Institute, whose talk on MaveMD discusses this functional data resource for genomic medicine.
#VariantEffect26
#MaveMD
#AtlasOfVariantEffectsAlliance
#VariantEffect26
#MaveMD
#AtlasOfVariantEffectsAlliance