Genomenon, Inc’s Post

Great new work out from Evan Eichler's group in Seattle using long-read sequencing to delve into the complexity of the mucin genes MUC5AC/MUC5B of which we can only scratch the surface using short-reads of SNP arrays. Nice to see also that they start to link disease associated alleles in MUC5AC to different haplogroups, including the MUC5AC pneumonia susceptibility genetic signal that we discovered back in 2021 (PMID: 35768473). Will be particularly interesting to see going forward how factors such as repeat length in mucins, which is known to impact their glycosylation and interaction with fluids, influence their role in disease. Full article here: https://lnkd.in/gy2n-rNN

Could your genetics hold the key to how severely COVID-19 impacts you? 🧬 Explore how PAI-1 polymorphisms may play a crucial role in COVID-19 severity and uncover the potential for personalized treatments based on genetic insights here: https://bit.ly/3UodYh7 Check out this fascinating article for more details and share your thoughts in the comments—how do you think genetics shapes disease outcomes? #COVID19Research #Genomics #PersonalizedMedicine

NEW WEBINAR! High Throughput Optical Genome Mapping Unleashed: European Case Studies and Innovations in Hematological Malignancies and Constitutional Genetic Diseases Thursday, May 9, 2024 8:00 am PT, 11:00 am ET, 17:00 CET In this session, we will explore the potential of optical genome mapping (OGM) in addressing hematological malignancy and complex genetic disease insights. Register now to join us for this free webinar sponsored by Bionano: https://ow.ly/PeKw50RosOg Elly De Vlieghere Darisha Jiandani #ConstitutionalGeneticDiseases

Join our educational #webinar on Nov 21 at 12:00 PM PT / 9:00 PM CET titled ‘At the heart of the matter: the contribution of non-coding DNA variants in inherited heart disease.’ In this webinar, we will explore the genetic causes of inherited heart diseases and discuss recent genome and transcriptome sequencing studies that have begun to highlight pathogenic variants in non-coding DNA regions that were previously missed or overlooked. Webinar Objectives: 🧬 Summarize the genetic causes of inherited heart diseases and sudden cardiac death 🧬 Provide examples of pathogenic non-coding variants that cause inherited heart diseases 🧬 Review the diagnostic strategies that are required to integrate non-coding variant analysis into genetic testing Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience Sign up: https://lnkd.in/dPfzqcbv

🌟 New Research Alert! 🌟 Explore Mitophagy-Related Genes in Sepsis! Our latest article, “Identification of Mitophagy-Related Genes in Sepsis,” uncovers critical insights into how mitochondrial autophagy can influence the onset and progression of sepsis. 🔍 Key Findings: Identified four key genes associated with mitophagy: TOMM20, TOMM22, TOMM40, and MFN1. Provides a foundation for future biological studies aimed at sepsis treatment. Published in Volume 19, Issue 8, 2024, this open access article is now available! 👉 Read it here: https://bit.ly/4dWpjvL Join us in advancing the understanding of sepsis and its treatments! #Sepsis #Mitophagy #MitochondrialHealth #OpenAccess #MedicalResearch #Biology #Inflammation #Healthcare #Genomics #ProteinInteraction

Are you familiar with our BluePrint Panel? This next-generation sequencing (NGS) test assesses the exonic regions of up to 1,000 genes. This panel can enable more accurate diagnoses and tailored treatment plans. Alongside our BluePrint Panel, Baylor Genetics offers a suite of NGS panels specifically tailored for rare diseases. Each panel is designed to meet the unique needs of clinicians, ensuring that every patient receives the most precise and relevant genetic insights. Explore our BluePrint Panel and discover how our other NGS panels for rare diseases can fit your needs. Let's unlock the potential of genetic insights together. Learn more: https://lnkd.in/eskYJQ8F  #ThinkBG #BGreat #GeneticTesting

One of the early goals of the Human Genome Project was to develop high-quality genetic maps of each human chromosome. Genetic maps are used by researchers to search for genes that, when mutated, can cause human disease. Researchers have used genetic mapping to implicate specific genes for many rare inherited disorders, including cystic fibrosis and Huntington's disease. Scientists also use genetic maps to identify genes that may play a role in more common disorders such as heart disease. I encourage you to learn more about genetic mapping! https://lnkd.in/eYakKi2E  

Explore how whole genome and transcriptome data are driving advancements in fusion and somatic variant detection. Hear from experts: 🔹 Katherine Miller, PhD (Nationwide Children’s Hospital): Discover the power of whole transcriptome sequencing in delivering sensitive fusion detection. 🔹 Stephanie Ferguson (Inocras): Learn how target-enhanced whole genome sequencing is differentiating tumor-specific changes from inherited sequences to boost detection accuracy in diverse populations. Don’t miss these valuable insights at #AMPath24 — register today! https://ow.ly/5qr650U6q2e Add to iCal: https://ow.ly/vYGQ50U6q2b #Genomics #NGS #FFPE

Streamline your genetic variant analysis with MAVEvidence! Our platform revolutionizes the approach to variant interpretation, reducing the time for functional data evaluation from 40 minutes to just 1-2 minutes per variant. Say goodbye to tedious manual searches and embrace a new era of efficiency and accuracy in genetic variant interpretation. Enhance your research and clinical outcomes with MAVEvidence. Sign up for a free trial today at mavevidence. com. #GeneticTesting #PrecisionMedicine #HealthcareInnovation #MAVEvidence #Genomics #ClinicalResearch

📢 Hot off the Press! New Research Findings and Insights Just Published 📚 The Journal of Clinical Genetics and Heredity has recently released a research article titled "A Comprehensive Review on Twin-twin Transfusion Syndrome Diagnosis and Treatment." Read the full-length article here: https://lnkd.in/gEgbMGmy Submissions are now open for the year 2024! Manuscripts can be directly submitted online via Clinicalgenetics@journalmapsci.org or through this link: https://lnkd.in/dvjH8PMv Don't miss out on the opportunity to contribute to the advancement of genetic research! #clinicalgenetics #heredityjournal #callforsubmissions #geneticresearch #geneticists #scientificdiscoveries #genomics #submitnow #submissionsopen #openaccess