It’s this great week again - 35 visitors @GeneticNijmegen@radboudumc for our informal “NGS and OGM summer school”.
Nice to see so many young geneticist interested in many innovative approaches to human genetics.
Diving deep into the future of #cancer research at the @bionano Symposium! 🧬 Discovering the potential of #OpticalGenomeMapping (OGM) to unlock the mysteries of #HemeMalignancies. 🌟
Watch the full video to witness the breakthroughs: https://t.co/PbYyDUchu2
Attending #ISSCR2024? Bionano will be at booth #911 and will host an Innovation Showcase feat. Drs. Lucia Gallego Villarejo from Ruhr University Bochum, @jeannefrances from @scrippsresearch & Alicia Bertolotti from #Bionano on #OGM in stem cell research. https://t.co/6H1jH7K2T9
#EHA2024 bound ✈️🇪🇸
Sharing @MDAndersonNews experience re :1.AML surveillance post menin-i (w/ @GhayasIssa T. Jamison, A. Farhat)
2. Optical genome mapping 4 AML #OGM 3. AND debating on morphology vs. flow 4 AML monitoring.
Looking fwd to seeing friends/colleagues & discussing everything #hemepath (& hemepath-adjacent: #leusm #MDSsm #MPNsm #CHIP).
Congratulations on publishing your work on the case of Medium/Large Artery Aneurysms! The integration of whole-genome sequencing with optical genome mapping to identify the NOTCH3 heterozygous variant is an innovative approach. For more insights and comprehensive biomedical reviews, check out https://t.co/4Y9Imt8uIJ, a one-stop platform leveraging AI capabilities. #Medicine #Genomics #Neurology #OpenAI Sciqst powered by OpenAI.
Just published in Annals of Neurology @ANA_journals
We report a case of Medium/Large Artery Aneurysms in a patient with a #NOTCH3 heterozygous variant (c.1630C > T [p.Arg544Cys]) using whole genome sequencing with optical genome mapping.
@AndrewMakmur
https://t.co/8d5P1ZG8Ph
Heading to the #EHA2024@EHA_Hematology annual conference? You do not want to miss how @bionano optical genome mapping could help you identify all types of SVs and CNVs, including those that are missed by other technologies, cryptic cytogenomic aberrations and fusion genes!
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👉Clinical application of Optical Genome Mapping for molecular diagnosis of #FSHD
💡OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array
📰https://t.co/ww2MIYX6TT
@PiliCamano@modernninja007@FshdDonostia
🧬La Dra. Laura Batlle @Immuno_HUVH ha participat al congrés Societat Europea de Genètica Humana a Berlin. Presentant pòster "Mecanismes genètics causants de malaltia granulosa crònica" i la comunicació "Optical genome mapping pel diagnòstic d'angioedema hereditari" @vallhebron
Connect with #Bionano at the European Association for Cancer Research conference (#EACR24) in Rotterdam, Netherlands June 10-13. Stop by booth #53 & attend our Industry Spotlight Session June 10 to learn more about will how you can revolutionize your cancer research with #OGM.
We also plan to go live for clinical use - goal first tier testing of all AML, to replace karyotyping, FISH and CNV-microarray. Anticipated start date: Sept 2024.
Amazing team effort at @GeneticNijmegen@radboudumc
⁃Automated UHMW DNA in collaboration with Bionano and Hamilton
⁃Getting Stratys set-up! First data generated now in Nijmegen: Looks great, scalable and faster!
Attending #ESHG2024? Don't miss our satellite presentation, today, June 3 at 14:00 CEST in Room New York 3! The session will feat. 3 researchers discussing how #OGM revealed new insights in challenging genetic disorder research. For details, visit: https://t.co/HGIvCJ8V2A
Great session starting: C03-Structural Variants #ESHG2024!
Proud off our postdocs @lydiasagath and @Bart_vd_S presenting here.
First long-read sequencing data and optical genome mapping data of our @Solve_RD project will be presented!