Brotman Baty Institute’s Post

Exciting news! #Revvity expands partnership with @GenomicsEngland to accelerate genomic research in the UK We're proud to contribute to early #diagnosis and intervention for #rare #genetic conditions in #newborns. This partnership reinforces our commitment to improving human health through science and technology. Learn more about this groundbreaking collaboration: Revvity Broadens Relationship with Genomics England to Advance Genomics in the UK | Revvity, Inc. http://ms.spr.ly/6049oEH4W #GenomicResearch #HealthcareInnovation #RareDisease #RevvityImpact

Advancements in genomics are set to revolutionize industries. In a roundtable discussion, experts from #Revvity highlight the profound impacts on precision medicine, cell and gene therapy, spatial biology, and non-coding RNAs. From omics-based diagnostics to non-invasive RNA tests, genomics will transform healthcare over the next five years. #Genomics #HealthcareInnovation #PrecisionMedicine #CellAndGeneTherapy

By studying the array of variations in individual peoples' genomes, scientists hope to gain deeper knowledge of the biological mechanisms behind health and disease, and reveal opportunities to develop new diagnostic tools and therapies. In Nature, many Broadies, including Bradley Bernstein, Jason Buenrostro, Luca Pinello, Jesse Engreitz, and dozens of their collaborators in the Impact of Genomic Variation on Function (IGVF) Consortium, describe the rationale behind their efforts to systematically and comprehensively catalog the molecular and cellular effects of genomic variants across hundreds of cell types and states. The goal: to create "an open resource that will catalyze community efforts to explore how our genomes influence biology and disease across populations." #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Dive into the future of biomedical research with an informative webinar on the Human Pangenome Reference Consortium (HPRC)! Discover how to: ✅Access HPRC data ✅Perform variant analyses ✅Map functional genomics data to the pangenome. Register now: https://lnkd.in/eeXp2gKu #ASHG #HumanGenetics

Dr. Douglas Fowler, a professor in the Department of Genome Sciences at the University of Washington and a global leader in genomic technology. Dr. Fowler is best known for pioneering **deep mutational scanning**, a revolutionary technique that allows the simultaneous measurement of tens of thousands of genetic variants' effects on protein function. His work has profoundly impacted fields like protein engineering, computational variant prediction, and the interpretation of genetic variations in clinical contexts. Dr. Fowler has spearheaded efforts to develop tools that advance genetic research globally. He founded the **Atlas of Variant Effects Alliance**, bringing together over 500 scientists worldwide to determine the impact of genetic variants across the human genome. He also leads the **Center for the Multiplex Assessment of Phenotype**, an NHGRI Center of Excellence in Genome Sciences, where his team explores innovative diagnostic and therapeutic approaches. His contributions have resulted in widely adopted resources, including **MaveDB**, the central database for multiplexed variant effect data, and cutting-edge tools for genome engineering. Dr. Fowler’s work not only enhances our understanding of genetic variation but also provides pathways for improving precision medicine and therapeutic strategies. Doug Fowler Sheetal Sharda Vishal Nanavaty, Ph. D. Dr. Udhaya Kotecha Ashka Prajapati Nidhi Shah Parth Shah Dr Bhavini Shah #cantmiss #iamg24 #genomics #SBRI #NCGM #conference

In the course of decision making, a clear choice is essential, don’t you think so! However, decision taking depends on past experiences and cataloging of informations stored in subconcious mind. Going through this experience, in terms of VUS and its informations storage helps scientific community. Hear how mammoth this task is… at #IAMG2024 #SBRI

ViCAR: an exciting new method to add to the 3D genomics toolkit By elegantly combining elements from HiCAR (Wei et al., Mol. Cell 2022) and CUT&Tag (Kaya-Okur et al., Nat. Communications 2019), Sean Flynn and co-workers from Shankar Balasubramanian's lab have developed a new method to capture chromatin interactions anchored by specific epigenetic histone modifications or secondary DNA structures. Happy I could make a small contribution - and excited to see which new discoveries ViCAR will enable in the future. https://lnkd.in/e55G3Ndf

⏳ Sharing in case of interests: Have just registered for virtual attendance for the #DarkGenomeSymposium - link below if you're keen too!   🧬 When scientists gather to search for the missing heritability in genetic studies, to advance long-read sequencing technologies, to formulate interpretations of biological functions from these identified sequences... and so much more

Our colleague Juan Carlos Triviño, PhD, BioInformatic Expert in Sistemas Genómicos | member of SYNLAB, is leading session #3: "Beyond DNA: Regulatory-region analysis and its possible impact on clinical diagnosis", of our symposium: "NEW TECHNOLOGIES AND APPROACHES IN CLINICAL GENOMICS" at ESHG2024. Regulatory-region analysis is not just a tool, but a key to unlocking a comprehensive understanding of genetic diseases. By including these regions in genetic testing, we can significantly enhance diagnostic accuracy, inform personalized treatment strategies, and provide invaluable insights for genetic counselling. As sequencing technologies and bioinformatics tools continue to advance, the ability to detect and interpret regulatory mutations will improve, leading to better clinical outcomes and more precise medical interventions. More info: direcciondeservicios@sistemasgenomicos.com We look forward to seeing you at our booth #570 #ESHG2024 #Genetic #SistemasGenomicos

Discover the cutting-edge world of single-cell sequencing! 🧬 Follow the link below to delve deeper into this emerging technique, revolutionizing genomics, transcriptomics, and epigenomics at the cellular level. Since its inception in 2009, single-cell transcriptome sequencing has led to a plethora of methodologies, opening doors to exploring complex biological phenomena without preconceived notions. Take the immune system, for example—an enigmatic network of cells operating in diverse pathophysiological pathways. Thanks to platforms like 10x Genomics, we can now unravel this complexity like never before. Click the link to learn more! https://lnkd.in/diCDEhMY