Nostos Genomics’ Post

💡 In Case You Missed It! The 'AION Research Grant Program' is now open and is your chance to transform rare disease diagnostics with the power of cutting-edge AI. At Nostos Genomics, we’ve seen how collaboration sparks breakthroughs — trusted by leading diagnostic labs in Europe and recently helping to solve previously undiagnosed cases as part of The Undiagnosed Hackathon. Now, it’s your turn! It's simple - Register your interest, provide a brief overview of your research goals and you could be selected to receive access to AION, including: ✔️ 20 Free Sample Runs (€1,000 value) ✔️ Matching Program: Double the value of any additional runs purchased ✔️ Certified Excellence: CE-IVD certified, ISO13485 certified 🗓️ Hurry! Only 10 spots available. 👉 Apply now: https://lnkd.in/eiJYiM6P Let’s advance rare disease research together! #RareDisease #Genomics #PrecisionMedicine #Innovation

🥈 Hats off to Project “Cite Seq Foundation Model Evaluation” for finishing as the Runner-Up in this year’s hackathon! A huge round of applause for Philip Fradkin, Cait Harrigan, and Hassaan Maan. 💡✨ 📝Project abstract: The relationships between the different levels of information in the central dogma hold important answers in our understanding of biology and disease. Although multi-modal measurements for sequencing data have become increasingly common, the mutual information and covariation between these modalities is often difficult to quantify and varies based on cell and tissue context. Previous approaches to predicting protein expression from RNA have relied on specialized models that transform the space between one modality to another. However, this does not answer fundamental questions about their relationships. In this work, we aim to explicitly determine information bounds between RNA and surface protein expression through a large CITE-seq dataset of peripheral blood mononuclear cells (PBMCs) that jointly measures both modalities in single-cells. After determining that mutual information can be improved through incorporating foundation model embeddings, we evaluate both single-cell and sequence-based foundation models in the surface protein prediction task. Our analysis offers a unique perspective on this prediction task by determining real bounds on mutual information and evaluating the performance of cutting-edge foundation models in a novel scenario with real-world applications, such as the study of disease mechanisms and developing RNA-based therapeutics and diagnostics. 🔗 https://lnkd.in/gbA_7gsh #Toronto #Bioinformatics #Hackathon

What a thoughtful and well-designed study!

🤔 What are the preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns | https://lnkd.in/g77ZCg4h ➡️ Parents perceived that NBSeq would improve their understanding of their children's future health. Most parents emphasized that they wanted their child screened for as many conditions as possible. One parent who was interviewed used the adage, “forewarned is forearmed”, emphasizing that genomic risk information could facilitate appropriate surveillance aimed at identifying emerging symptoms of a condition. ➡️ Another parent described how a monogenic risk variant could improve personalized medical care for their child in the future. ➡️ Most parents supported the inclusion of treatable, adult-onset conditions. One interviewed parent noted that although the information may not be useful in childhood, it would facilitate surveillance after age 18, stating: "Although he won't be affected in childhood, the risk is present, and you can monitor the condition as he grows up." ➡️ The majority of parents who were interviewed supported the inclusion of non-treatable forms of childhood-onset neuroregression. One parent who was interviewed felt that an early diagnosis provided a pathway to future treatment, stating: “The only way to help someone is to know what he has”. As the number of treatable genetic conditions grows, it is important to consider the views of stakeholders, especially parents, on the future expansion of newborn screening through genomic sequencing. Interviews and focus groups with parents from diverse backgrounds revealed enthusiasm for expanding newborn screening using genomic sequencing. #Genomes2People #G2P #Genetics #DNA #Genes #GeneticConditions #GeneticDisorders #NewbornScreening #GenomicSequencing #GenomicScreening #HealthyNewborns #NewbornHealth #Screening #Genomic #Genomics #PreventiveGenetics #PreventiveGenomics #Healthcare #PrimaryCare #PersonalizedHealthcare #MedicalCare #PersonalizedMedicalCare #AdultOnsetConditions #ChildhoodDisorders #ChildhoodDiseases #Neuroregression #FutureOfHealthcare

🧬 We're excited to share the results of a project conducted in collaboration with Australian Families 4 Genomics (AF4G). 🖥️ We used a Discrete Choice Experiment (DCE) to explore people's preferences for sharing genomic information in a database or library. 💡 Key findings from the aggregate data revealed that the most important consideration for participants in deciding to share genomic information was whether finding their personal data later is guaranteed, followed by what kind of information is stored and what type of organisation runs the library. Using a Latent Class DCE model, we identified two distinct participant groups with different levels of willingness to share genomic data. Check out the infographic below for more study findings ⬇️ #DiscreteChoiceExperiment #PatientPreferences #Genomics #PatientVoice

🌟 Don't Forget to Register! 🌟 Our "Single Cell Genomics Event" with 10x Genomics and Asst. Prof. Tolga Sutlu is just around the corner! If you haven't registered yet, now is the time. This event is a unique chance to explore groundbreaking advancements in genomics, connect with experts, and expand your knowledge in this exciting field. Seats are filling up fast, so make sure to secure your spot! 🔗 Register now: https://lnkd.in/drZkKm7D Looking forward to seeing you there and diving deep into the world of single cell genomics! #10xgenomics #singlecellsequencing #genomics

🥳 Paper out today! With funding from the The Greenwall Foundation, our research team (Jackie Omorodion, Ingrid Holm, Celeste Hsu, MBE, Sonja Ziniel, Greysha Rivera-Cruz, and Maya del Rosario) explored an important question: What do parents really think about using genomic sequencing to screen healthy babies for genetic conditions? Through interviews and focus groups, we found that mothers from diverse racial, geographic, ethnic, and educational backgrounds were generally supportive of expanding newborn screening using genomic sequencing. Many participants saw value in screening for a range of conditions, even when no treatments were available. As the field of genomic newborn screening advances, the voices of families and children will be essential in guiding us forward. ✍ Read the paper here: https://lnkd.in/erJ2ZMni

We're thrilled to share the love and make the genomics community even stronger. Starting today, you can earn exclusive rewards by simply spreading the word about the trusted services you rely on. Here's how it works: 1. Generate your referral URL 2. Share the link with your network 3. You both get rewarded! It's that easy! Head to https://hubs.ly/Q02lg3cm0 and gift the power of genomics today. #Genomics #ReferralProgram

Check this out about our new born! With #Stratys, we set a new pace for whole genome analysis when it comes to SVs. Remember: #OGM is 10,000 times more resolutive than Karyotyping! #OGM is « Karyo under steroids ! » (Alex Hoischen)

🧬 Happy National DNA Day! 🧬 Today, we celebrate the scientific advances that have built our current understanding of DNA. From the completion of the Human Genome Project in 2003 to the discovery of the DNA’s double helix in 1953, these breakthroughs made the power of today’s sequencing technology possible. At Element, we’re continuing to redefine the space with the AVITI24™ , the first-of-its kind sequencer with unprecedented multi-omics capabilities that analyzes more than just DNA simultaneously. Never before have so many data points been available to researchers at this cost and speed. https://bit.ly/49RR1Ib Working closely with our network of customers, Element is continuing to push the boundaries of our scientific knowledge and sequencing capabilities. Together, we're shaping the future of science one breakthrough at a time 🤝 #ElemBio #NationalDNADay #Genomics ##DNASequencing