🌟 Last week, #TeamRadyGenomics had an inspiring time at #AGBTPH! Here’s a recap of our highlights: 🎤 Meredith Wright, Ph.D. delivered an insightful talk on "Prequalification of genomic newborn screening for severe childhood genetic diseases using harmonized population and variant databases." 📊 Rebecca Reimers and Meredith presented a poster on "High-risk pregnancies enriched for genetic disorders in BeginNGS genome-based newborn screening pilot clinical trial." 👥 Dr. Stephen Kingsmore was part of the host committee for AGBT. A huge thank you to AGBT - Advances in Genome Biology and Technology for hosting us and providing a fantastic platform to share our #research and connect with fellow innovators in #genomics! #RareDisease #NewbornScreening
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🧬 Decode Genetic Mysteries with Advait Theragnostics! 🔍 Whether you're studying rare diseases, developing precision therapies or exploring population genomics, our comprehensive genomics services are designed to propel your research forward. From tiny SNPs to complex structural variants, our cutting-edge genomic solutions cover it all. Whether you're analyzing Indels, Del/Dup, or searching for larger genetic mutations, we provide actionable genetic insights across all sample types and technologies. 💻 Tired of inconsistent data and limited support? 🔍 Ready to accelerate your next genomics discovery? Partner with Advait Theragnostics for unparalleled accuracy in your genomic research. 📞+91-77770-04778 or 📧 info@advaitdx.com #Genomics #GenomicDiscovery #LifeSciences #PrecisionGenomics #Indels #SNPs #DelDup #StructuralVariants #ResearchExcellence #AdvaitTheragnostics #Sequencing #DataAnalysisInterpretation
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Happy National DNA Day! 🧬 Today, we celebrate the breakthroughs that have propelled our understanding in genetics and genomics, and guide our future innovations. Historically, structural variants have posed considerable challenges for study, despite being a significant source of variation within the human genome. With new and innovative technologies, like electronic genome mapping, researchers can now dive deeper into understanding genetic diseases, rare diseases, cancers, and much more. Celebrate National DNA Day with us and learn more about structural variants and electronic genome mapping here 👉 https://lnkd.in/geAc_3iZ #DNADay #DNA #Genomics #GenomicResearch #DNASequencing
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Program Manager | Passionate about Innovating Healthcare through Precision Medicine with MUSC Health's In Our DNA SC
We're continuing to hit milestones for In Our DNA SC, reaching our halfway point to our 100k goal! We're offering no cost genetic testing for CDC Tier 1 conditions (Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia), empowering individuals to take proactive steps in their healthcare journey. Learn more about this groundbreaking achievement and how it's shaping the future of personalized medicine! #InOurDNASC
MUSC's In Our DNA SC program, a groundbreaking genomics initiative, reaches 50,000 participants, providing free genetic risk screening for key health conditions. Learn more: https://lnkd.in/eKUTjCr9 #InOurDNASC
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Experience the pinnacle of precision genomics with PacBio HiFi sequencing! Achieve >99.9% accuracy in identifying SNVs, indels, and SVs with long reads up to 25 kb. Generate complete, phased genome assemblies for comprehensive insights into health and disease. Enhance diagnosis sensitivity and produce reference-quality de novo assemblies for population-specific, disease-specific, or individual genomes. Experience unmatched coverage and resolution, even in complex regions. Join us in setting the standard in precision whole genome sequencing! #sequencing #wgs #genomics #svdiscovery
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Providing invaluable insights into human health and diseases!
Experience the pinnacle of precision genomics with PacBio HiFi sequencing! Achieve >99.9% accuracy in identifying SNVs, indels, and SVs with long reads up to 25 kb. Generate complete, phased genome assemblies for comprehensive insights into health and disease. Enhance diagnosis sensitivity and produce reference-quality de novo assemblies for population-specific, disease-specific, or individual genomes. Experience unmatched coverage and resolution, even in complex regions. Join us in setting the standard in precision whole genome sequencing! #sequencing #wgs #genomics #svdiscovery
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This weeks' episode of 'She Did That' features the unbelievably intelligent and mission driven Charlotte Guzzo of Sano Genetics. A smart tech company matching patients with clinical trials - helping give sick people a glimmer of hope and the opportunity to help others in the future suffering from an incurable disease AND helping the Doctors conducting these trials to fill them with enough participants to gain enough data to bring new treatments to market - quicker! The team use genetic sequencing of individuals to match them with the right trial whilst developing a detailed profile of each person to analyse exact sequencing to also see if there are any common similarities between those suffering - perhaps one day we will know more about predisposition to rare diseases. You might think you're far removed from this but 1 in 7 people suffer from a rare disease of some sort. Charlotte and her team are deeply mission driven and passionate about understanding humans, speeding up trials and essentially helping bring hope to families dealing with the devastating effects. Full episode here https://lnkd.in/e243bRm6 #genetics #DNAsampling #clinicaltrials #rarediseases #techforgood
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Enhance patient outcomes with genomic knowledge. This guide, developed by GPs and subject matter experts is a suite of concise summaries on various clinical topics in genetics and genomics and is based on the best available current evidence. Get this FREE resource at activities in general practice here: https://ow.ly/UU5a50RXtW8 #GeneralPractitioner #Genomics #ClinicalResources #EnsureLife
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Unlock the secrets of your DNA with GenomeX’s advanced DNA Sequencing services. From decoding genetic information to identifying mutations, our cutting-edge technology provides comprehensive insights essential for genomics research, disease study, and personalized medicine. Whether you’re exploring evolutionary relationships, tracking pathogens, or detecting genetic abnormalities through prenatal testing, our sequencing supports a wide range of scientific and clinical applications. Revolutionize your research with accurate, in-depth genetic analysis and discover new genes and the mechanisms behind complex diseases. Contact us today to explore the full potential of your DNA. 📞 +92 337 4845 825 🌐 www.thegenomex.com 📧 info@thegenomex.com #GenomeX #DNASequencing #GeneticResearch #HealthScience #Biotechnology #Genomics
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Defining new genetic causes of disease requires collaborations between researchers, clinicians, patients and families, and diagnostic laboratories. Meghan Towne, MS, CGC, LGC, explains the importance of continued gene-disease relationships discovery for the genomics community. Explore how labs can harness the power of our collective knowledge to push discovery forward, especially for rare and ultrarare conditions. #genetictesting #genomics #raredisease #exome #GeneMatcher #genechat https://hubs.ly/Q02j2bbR0
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Catalog of Simple Tandem Repeats in an interactive database...way forward for mapping Unsolved rare disorders and missing inheritance....!! New from our Lab.....#CSIR-IGIB, #GOMED, #Genomics
STRIDE-DB: a comprehensive database for exploration of instability and phenotypic relevance of short tandem repeats in the human genome
academic.oup.com
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Thank you for joining us at #AGBTPH! It was great seeing your team.