The McDonnell Genome Institute, WashU Medicine’s Post

"Every once in a while, a new technology, an old problem, and a big idea turn into innovation." The first human genome took 13 years and a billions of dollars to sequence. Since then, though, genomics has come so far, so fast! 🚀 Innovation in genomics is pushing boundaries all the time. On 𝐎𝐜𝐭𝐨𝐛𝐞𝐫 𝟗𝐭𝐡 𝐚𝐭 𝟏𝟖:𝟎𝟎 𝐂𝐄𝐓, you can catch another leap forward when Illumina unveils its newest innovation. Join me and other genomics and biotech fans at this virtual event to learn how the latest NGS tech is speeding up discoveries, hear success stories from early adopters, and get a firsthand look at real-world data. If you're excited about the future of genomics, you won't want to miss this! 🔬🌍  Registration: https://lnkd.in/dZUaHJHt #Innovation #Illumina #GeneTiCA #NGS #GetToKnow

🚀 Introducing the new MiSeq™ i100 Series – Fastest, simplest benchtop sequencer from @illumina! With same-day results and minimal hands-on time, this game-changer in the world of Next-Generation Sequencing system enables you to dive deeper into your research and uncover valuable insights faster than ever before. Whether you’re conducting routine genomic analysis or pushing the boundaries of discovery, the MiSeq i100 Series gives you the precision, speed, and flexibility you need to stay ahead. 🔬 Now, you can accelerate your journey from sample to answer, empowering breakthroughs in genomics. ⏱️Fastest run times yet 🏅Breakthrough simplicity 🗓️Flexibility in planning 🌲Significant sustainability advancements Read here for more: https://lnkd.in/dGb8yPQY Shipped by GeneTiCA Group, invented by Illumina, supported by both! #NGS #MiSeqi100 #Innovation #GetToKnow

Enjoy this video explainer from ENHANC3D GENOMICS on how their 3D genome altas is unlocking disease insights and opening up new avenues for treatments.

🎥 🧬 Have you seen ENHANC3D GENOMICS’ new video?   The animation takes you through the journey from understanding the complex 3D genome architecture and how it regulates gene expression to identifying long-range 3D interactions across the entire genome and connecting disease-associated genetic variants located in gene enhancers to their target genes.   Enhanc3D Genomics is building a 3D Genome Atlas to identify novel disease genes and pathways to stratify patients, discover biomarkers and identify novel drug targets.   See the full video below, or visit Enhanc3D Genomics’ website: https://lnkd.in/dQ-mFdS5   #3DGenomics #DrugDiscovery #TargetDiscovery #Genomics

Exciting times at Illumina! Check out the links below to learn more about Constellation mapped read technology.

Until now it has been impossible to detect the most common cause of hemophilia A in boys. Constellation makes this problem historical. This is one of many difficult variants that Constellation will allow rapid diagnostic genome sequencing to report in as little as a day. Previously these variants had to be identified by custom one-off assays that typically took a month or more.

🔎 Learn more about constellation mapped read technology ✨ Last month, Niall J Lennon and I had the pleasure to provide a first look at Illumina’s new constellation mapped read technology at the American Society of Human Genetics annual meeting. The interest and enthusiasm have been enormous, and the team is excited to provide more updates in the future as we approach full commercialization--including more updates on cost.    Watch a video recap of our #ASHG talk and gain new insights into this revolutionary technology by reading this Genomics Research Hub article. 📽️ https://lnkd.in/gRvVM-M6 🔬 https://lnkd.in/gefDUVRd

🚨 Check this new tech blog post from Illumina scientists on constellation technology and how it works!

#ASHG24 Day 2: All Eyes on Single-Cell Single-Cell Sequencing is becoming a more mature technology, and it seems like every industry player, big and small, in the genomics world has launched their own single-cell tools. A space once dominated by 10x Genomics is now a crowded market, and more people are talking about Parse Biosciences. Spatial Biology had some representation, but the technology needs more development and a lower price tag before we start seeing wider adoption, especially in the pathology space.

🔬 Association of Variants in TMEM45A With Keratoglobus – Narrative with Notebook LM 📖 Back in 2021, I published a paper titled "Association of Variants in TMEM45A With Keratoglobus," focusing on the genetic insights into this rare eye condition. With the use of Notebook LM, the story of this research has been completely transformed. While the findings remain crucial for understanding the genetic role of TMEM45A in Keratoglobus, Notebook LM presented these insights in a fresh, engaging way. It turned the scientific data into a compelling narrative, making the science more relatable and accessible than I ever could have told it myself. ✨ It’s incredible how this tool brought "life" into the research, taking it beyond the pages of a journal! Listen below – click on play ▶️ #ResearchInnovation 🔍 #ScienceCommunication 🧬 #NotebookLM 💻 #Genetics 🧬 #Keratoglobus 👁️ #ScientificStorytelling 📚 #MedicalGenetics #HealthTech #RareDisease #InnovativeScience