COMMENT PIECE: ‘Rare disease genomic testing: promoting timely and equitable access’. In this article, Dr Sarah Wynn and Professors Sian Ellard, Emma Baple and Rob Taylor discuss the recently published Position Statement on the best practice for ensuring consistent delivery of genomic testing for rare diseases. Read the full comment piece for free on our website: https://lnkd.in/etk7J_r3 To share your thoughts on this article all you need to do is follow the link, sign in and leave a comment – why not give it a try today. #genomics #genetics #DNA #
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Why Long-read sequencing analysis?🤔 🔷 Provides full genome coverage. 🔷Facilitates accurate structural variant detection. 🔷Improves genome assembly quality. 🔷Offers insights into complex genomic landscapes. We hope with technology like LongRead sequencing we can create a world with no undiagnosed rare diseases. Here is a comprehensive piece of content from my team. https://lnkd.in/dRHtBVHz #Longreadsequencing #genomics #genetics #precisionmedicine #rarediseases
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📢 Current Promotion: Discover the power of our GSA service! Unlock insights into genetic variation, disease, and pharmacogenomics with our Infinium Global Screening Array. Customisable booster options, multi-ethnic genome-wide coverage, and high throughput processing make it perfect for your application. Learn more today! 💻 https://lnkd.in/eCyf3qyu #agrf #genomics #genetics #research #populationgenomics #globalscreeningarray
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We wanted to remind you that our special Global Screening Array (GSA) 10% discount offer is coming to an end on Monday 17 June 2024. Our GSA service offers flexibility and affordability for population genetics, pharmacogenetics, disease studies and more, empowering researchers like you with expertly curated global content, providing insights that drive ground-breaking discoveries. Here's why our Illumina Infinium GSA stands out: 🔹 Flexible Solutions: Tailored to meet the diverse needs of genetic research, our GSA service offers flexibility in study design, sample types, and data analysis. 🔹 Affordable Innovation: We understand the importance of cost-effective solutions without compromising on quality. Our GSA service provides affordability without sacrificing accuracy or depth of data. 🔹 Expertly Curated Content: With curated content from around the globe, including diverse populations, our array ensures comprehensive coverage for a wide range of research applications. 🔹 Customisable booster content available. Whether you're exploring population genetics, investigating disease pathways, or delving into pharmacogenetics, our GSA service is your gateway to transformative insights. Are you ready to take your genetic research to the next level? Reach out to our team today to learn more about how our service can accelerate your research goals. 📧 CustomerCare@agrf.org.au Promo Code: ARRAYS050524 #PopulationGenomics #GenomicsResearch #GeneticAnalysis #ResearchTools #ScienceDiscount #DiscoveriesAwait
📢 Current Promotion: Discover the power of our GSA service! Unlock insights into genetic variation, disease, and pharmacogenomics with our Infinium Global Screening Array. Customisable booster options, multi-ethnic genome-wide coverage, and high throughput processing make it perfect for your application. Learn more today! 💻 https://lnkd.in/eCyf3qyu #agrf #genomics #genetics #research #populationgenomics #globalscreeningarray
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🧬✨ DARK PROTEOME Reveals Thousands of New Human Genes 🔍🌌 🚨 Researchers have explored the enigmatic proteome and uncovered thousands of previously unknown human genes, reshaping current genome medicine. 🧠🔬 Many nontraditional genes, producing smaller proteins, have been overlooked. As a result, scientists now have fresh targets for therapeutic development and diagnsotics of rare diseases. WES approach in clincial settings only scratches the surface; for a comprehensive understanding of genetic variation. The true number of human genes could be much higher than previously thought—possibly reaching 50.000. 📰 Read more: https://lnkd.in/dxpSPWpT #Genomics #BiotechInnovation #DarkProteome #HumanGenes #ScienceForHealth #Rarediseases #Proteomics Asociación Española de Genética Humana
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Here are a few things that genomic medicine can do. #genome #genomics #genomicmedicine #genomeediting #genes #genetics #geneticmodification #genomicsforall #mibiometherapeutics
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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
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📣Today📣 Catch how leaders are working on providing population genomic medicine at scale! Need a reminder? Add this #ASHG2024 event to your calendar: https://bit.ly/4enERZP #genetics #genomics #wholegenomesequencing
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Variants of uncertain significance (VUS) for aHUS https://lnkd.in/echui7Kg Our article highlights a podcast by NHS England’s Helen Brittain, Clinical Lead for Rare Disease Diagnostics at Genomics England . #complement #aHUS #atypicalHUS #NHS #genetics #genome
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🌟 Excited to Share My Experience! 🌟 I recently had the privilege of participating in the online webinar titled "CRISPR Chronicles: Rewriting Genetic Diversity In Disease," presented by Miss Prerna Mehta, Ambassador of MicrobiologistsSociety, India. The insights gained from this session were incredibly valuable and have deepened my understanding of CRISPR technology and its potential in addressing genetic diseases. A big thank you to SciBug for organizing such an informative and engaging webinar! #CRISPR #Genetics #Webinar #ContinuousLearning #Biomedicalscience #SciBugtechnology
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