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Cool development! I remember discussing DddA fusion craziness with you a few years back in Barcelona! Such a treasure of an enzyme!!! I am sooo looking forward to applying this to our questions.
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Excited to be an Associate Member of the @SMaHTnetwork and to investigate the contribution of somatic mutations to human centromere variation within different tissues of an individual!
Our SMaHT Associate Members play a key role in advancing the network, contributing to somatic variant catalogs, developing new sequencing tools, and shaping data resources that deepen our understanding of human biology. Learn more: smaht.org/associate-members/
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‼️We're just hours away from our next #CFDE #PublicWebinarSeries featuring Elizabeth Chun from the @SMaHTnetwork 💻 Register for the event: broadinstitute.zoom.us/webin…
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🤔Curious how somatic mosaicism is being studied across human tissues? 🧬Join the #CFDE #PublicWebinarSeries as Elizabeth Chun, PhD presents @SMaHTnetwork data, analysis, & data portal ‼️TOMORROW‼️ 📆Feb 27 | 1-2 PM ET 💻 Register: broadinstitute.zoom.us/webin…
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Congratulations and many thanks to lead authors @alex_bradu (who runs our single cell genomics day!), and John Blair (@jblairsci.bsky.social). And to our funders @genome_gov (via @cegs_ica), @SMaHTnetwork, and @cziscience
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🧬 Curious how somatic mosaicism is being studied across human tissues? Join the #CFDEPublicWebinarSeries as Elizabeth Chun, PhD presents @SMaHTnetwork data, analysis, & data portal! 📅 February 27 | 1-2 PM ET 💻 Register: broadinstitute.zoom.us/webin…
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From coffee-fueled coding marathons ☕ to new genomics tools: Our 2024 #Hackathon paper is out in @F1000Research! Huge thanks to everyone from around the world who joined the @BCM_HGSC madness 🎉 🔗 f1000research.com/articles/1… @GREGoR_research @SMaHTnetwork #OpenScience @DCGenomics
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plsRT: Looking for a motivated postdoc! Join us at @BCM_HGSC to explore the mosaic & somatic landscape of the human genome: structural variants, methylation, and all things @SMaHTnetwork If you like long reads, complex variants & methylation come talk to me! #Genomics #postdoc
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Mapping cancer somatic variants T2T. 16% of mutations occur in sequences missing from GRCh38. Satellites are UV-damage hotspots. Centromeres undergo extensive genetic and epigenetic remodeling. Somatic epimutations remodel cancer epigenomes. @SMaHTnetwork biorxiv.org/content/10.1101/…
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Shout out to the incredible Charles Gawad for pioneering PTA and to our friends at @bioskryb & @UltimaGenomics for believing in this vision. Gratitude also to our funders @TheMarkFdn @theNCI @cegs_ica @SMaHTnetwork
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We're a week away from our @NIH_CommonFund ancillary session at #ashg2025 highlighting scientific research from various programs including the #KnowledgeCenter, @SMaHTnetwork & the #CFDETrainingCenter ! Learn more here: cfdeashg2025.wordpress.com/a…
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Today is our 7th #bioinformatics Hackathon @BCM_HGSC ! 120 people from around the world attending!! Super excited about all the projects that are coming! Thanks to @DCGenomics @dnanexus @GREGoR_research @SMaHTnetwork ! Stay tuned !
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Huge thanks to all the many collaborators and team members. Thank you also to our funders @theNCI @TheMarkFdn @MelanomaReAlli @SMaHTnetwork
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The @SMaHTnetwork, funded by the @NIH_CommonFund, will map somatic mutations across human tissues with single-cell sequencing—revealing the causes, patterns & consequences of these mutations in normal cells to provide a key baseline for disease research. nature.com/articles/s41586-0…
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Last call for #bioinformatics #hackathon @BCM_HGSC Aug 27-29. Register: fritzsedlazeck.github.io/blo… Projects range from TR, SV to pangenomcs, metagenomics etc. Projects will be published in F1000. With support from @dnanexus @SMaHTnetwork @GREGoR_research #openscience #genomics
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Congratulations @fuyilei96 ! Yilei will investigate Tandem repeats across tissues in @SMaHTnetwork ! super exciting work! :)
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Neat article in @TheAtlantic about our increasing understanding of somatic mosaicism & its role in both oncologic and non-oncologic disease. Highlights goals & ongoing work from the @NIH @SMaHTnetwork theatlantic.com/health/archi… by @liebowitz_jason h/t @tigerstatdoc
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What mutations hides in our cells? We utilized @nanopore for WGS single cell sequencing to find out with @MichalIzydorcz1 & @proukakis! Interesting transposon patterns repeat recombinations! medrxiv.org/content/10.1101/… Fig: SC deletion also present in bulk. @SMaHTnetwork @BCM_HGSC
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