Fabric Genomics

Thank you Gordon Sanghera for highlighting Fabric Genomics as one of the key partners! Looking forward to making a difference together! #nanoporeconf #WholeGenomeSequencing #genomics #RapidPrecisionMedicine

What you're missing matters! #WYMM. So don't miss London Calling 2024. Hear how you can generate ultra-rich data for answers with real impact. Register to join us online (for free) to see what all the fuss is about. Register here: https://bit.ly/4dB87x9 #nanoporeconf

We are at an inflection point in the field of precision/genomic medicine, whereby clinical rapid genome sequencing is starting to take root, but not yet fully embraced by most healthcare payors. While the diagnostic utility of clinical genome sequencing in critically ill children is well-recognized, the impact of genomics on clinical outcomes is less established. In this pre-print, we used artificial intelligence (AI) technologies to explore the predictive value of genome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD) in a cohort of 2,253 CHD patients from the Pediatric Cardiac Genomics Consortium (PCGC). The NHBLI-funded PCGC is one of the world’s largest collections of genetic, phenotypic, and clinical variables for CHD and thus provides an excellent resource for exploring the utility of genomics data for outcomes prediction. Our findings define a critical role for genome sequencing in outcomes prediction for congenital cardiac surgeries, especially in the context of higher risk surgical procedures, specific CHD phenotypes and extra-cardiac anomalies. Importantly, the absence of damaging genotypes was protective for adverse outcomes following congenital cardiac surgery. Thus, genomic information is informative whether or not a proband has an identified damaging genotype. Our findings suggest that genome sequencing of all newborns with complex CHD is clinically indicated to empower personalized risk-stratification for outcomes following congenital cardiac surgery.   https://lnkd.in/gEZXJu3h

Curating the Clinical Genome is introducing Lightning Talks at #CCG2024! Three rounds of Lightning Talks, with speakers selected from submitted abstracts, will occur during the conference. Each round will have 4-5 speakers who will have 5 minutes each to deliver their talk. No time will be allotted for questions between speakers. See the Lightning Talk speakers and talk titles in the conference program:  https://lnkd.in/gHvBM7sU

What a captivating start to Day 2 at #GenomicsFrontiers24!    🐚 Our Clinical Laboratory Director Lucia Guidugli, Ph.D., FACMG, and Clinical Molecular Geneticist Jennifer Schleit PhD FACMG, began the morning with insights on identifying trinucleotide repeat expansions in DMPK using #rapidWholeGenomeSequencing (rWGS).    🐚 A lightning talk with Whitney Thompson M.D. M.Phil and Eric Klee from Mayo Clinic showcased clever acronyms while discussing challenges and opportunities in clinical urWGS #diagnostics and #therapeutics, and the exciting potential of integrating translational research into urWGS programs.    🐚 Matthew Bainbridge, our Associate Director of Clinical Genomics Research, delivered an enlightening talk on DNA methylation, imprinting, and long-read sequencing, exploring novel approaches to identifying new imprinted regions.    🐚 Dr. Gail Knight, SVP & Chief Medical Officer from Rady Children's Hospital-San Diego, shared moving stories from her upbringing and highlighted how #rWGS has touched her personally and has influenced RCHSD’s use of #genomics in the NICU and PICU.    🐚 We wrapped up the morning with a clinical panel discussion featuring Paige Hazelton from Mayo Clinic, Joseph Fakhoury from Bronson Children's Hospital, Sabrina Jenkins, MD, from University of Utah Health, and Kristen Suhrie from Riley Children's Health, sharing their experiences in the NICU.    Stay tuned for a recap of our afternoon sessions! 

👩⚕️Calling all physicians and nurses!👨⚕️ ⬆️ Elevate your expertise at our upcoming Frontiers in Pediatric Genomic Medicine conference on May 1-2. 📚 Earn valuable CME credit from UC San Diego Continuing Professional Development or accrue up to 10.0 continuing education contact hours for nurses. The University of California San Diego School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The University of California San Diego School of Medicine designates this live activity for a maximum of 10 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 🌊 Ride the wave of pediatric genomic medicine and discover firsthand how rapid precision medicine is reshaping lives. Don't miss this opportunity to stay ahead in your field! Register for virtual attendance here: https://lnkd.in/gjdBefMc #GenomicsFrontiers24 #CME #pediatrics #WholeGenomeSequencing #genomics #raredisease

We are excited to announce the launch of the Compatible Products Programme. The new initiative is designed to showcase and expand the network of approved third-party products to foster a more accessible genomics ecosystem and new applications of nanopore technology. Read here: https://bit.ly/4d9QtA9