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Posts by Atlas of Variant Effects Alliance

KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes
KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes YouTube video by Variant Effects

If you missed our April Variant Effects Seminars, they're now on our YouTube channel. Olivia Zhang (Liau Lab, Harvard University) spoke about her work on how KBTBD4 cancer hotspot mutations drive neomorphic degradation of HDAC1/2 corepressor complexes.

Watch now: youtu.be/K3Nk6_ecH5U?...

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The image says thank you to the sponsors of the Mutational Scanning Symposium (MSS) 2026 and shows the sponsors' logos. These are as follows: 
Gold sponsors: Ambry Genetics and Illumina.
Silver sponsors: Australian Functional Genomics Network (AFGN), Brotman Baty Institute (BBI), the Collaborative Centre for Genomic Cancer Medicine and Twist Bioscience.
Bronze sponsors: WEHI (the Walter and Eliza Hall Institute of Medical Research).
Venue sponsors: St Vincent's Institute of Medical Research (SVI) and The Aikenhead Centre for Medical Discovery (ACMD).

The image says thank you to the sponsors of the Mutational Scanning Symposium (MSS) 2026 and shows the sponsors' logos. These are as follows: Gold sponsors: Ambry Genetics and Illumina. Silver sponsors: Australian Functional Genomics Network (AFGN), Brotman Baty Institute (BBI), the Collaborative Centre for Genomic Cancer Medicine and Twist Bioscience. Bronze sponsors: WEHI (the Walter and Eliza Hall Institute of Medical Research). Venue sponsors: St Vincent's Institute of Medical Research (SVI) and The Aikenhead Centre for Medical Discovery (ACMD).

MSS 2026 brought together the global MAVE community for 3 days of superb scientific presentations, posters and interactions.

Many thanks to our sponsors: Ambry Genetics, Illumina, AFGN, BBI, Twist Bioscience, the Collaborative Centre for Genomic Cancer Medicine, WEHI, SVI & ACMD.

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🧬 Join the VESS Organizing Committee! We are looking for early-career scientists to help shape our global, community-driven seminar program.
📅 Deadline to apply: April 30, 2026
ℹ️ Learn more and apply👇
forms.gle/vdLh3mu9Fuid...
#VESS #VariantEffects #Seminar #Genomics #EarlyCareer

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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.

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Many thanks to all our MSS 2026 sponsors. It's great to have you here!

At the podium now is Joel Geoghegan from Illumina.

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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.

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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.

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#MissenseVariants #CAGI7
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On stage now is Alistair Dunham of the Wellcome Sanger Institute with a talk about the standardization and joint analysis of 2041 MAVEs.

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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.

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3 weeks ago 2 0 0 0
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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.

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#LABELseq ##DeepMutationalScanning
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Such a shame that you weren't able to get here. But there is definitely always next year! And we are looking forward to seeing you speak in person then!

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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.

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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.

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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.

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Yesterday evening, we enjoyed a fantastic poster session at MSS 2026. There was a real buzz with lots of great conversations!

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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'.

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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'.

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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.

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Amelie Stein joins us now from the University of Copenhagen (Københavns Universitet) to deliver a talk about variant consequences in context.

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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.

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Speaking next on high resolution functional assessment of SMAD4 variants is Jacob Purcell of Monash University.

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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.

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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.

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Everyone's had lunch and chance to begin exploring the posters. So, now we return to the talks!

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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.

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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.

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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.

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Next up is Omar Tariq from the University of British Columbia talking about tfGPRA -- a high-throughput platform for transcription factor characterization.

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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'.

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#Genomics #Modeling
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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).

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#MAVEs #VAMPseq #SGE #MPRAs
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