The Atypical HUS Alliance Action’s Post

📢 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

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. 📧 [email protected] Promo Code: ARRAYS050524 #PopulationGenomics #GenomicsResearch #GeneticAnalysis #ResearchTools #ScienceDiscount #DiscoveriesAwait

A nice summary of just one of Ambry's capabilities from our ACMG presentation.

I am delighted to share the publication of our latest research paper titled "Protein Modeling and In Silico Analysis to Assess Pathogenicity of ABCA4 Variants in Patients with Inherited Retinal Disease," now available on PubMed [https://lnkd.in/eXvvzrXR]. #RetinalResearch #ProteinModeling #InSilicoAnalysis #Genetics #Publication #Collaboration

Join Meghan Towne, MS, CGC, LGC as she summarizes a study Ambry presented at ACMG, "Optimizing Diagnostic Potential: Impact of Familial Sample Configurations on Exome Sequencing" and explains the importance of parental trios and continuing research to improve the clinical utility of exome sequencing. #ACMG2024 #genetics #genomics #exome #VUS #Classifi

🧬 It's National DNA Day! Thanks to the discovery of the double helix and other scientific advancements, we now understand genetic diseases and predispositions better, leading to more personalized healthcare and targeted treatments. #DNADay24 #Genetics #Genomics

Submit an abstract and present at #ISPD2024 - the ISPD International Conference on Prenatal Diagnosis and Therapy. Up to five travel scholarships are available to abstract presenters from low- and middle-income countries. Visit the website to learn more and submit an abstract: https://lnkd.in/gptvxPkp #prenataldiagnosis #fetaltherapy #genomics #genetics

The rapid advancements in #diseasebiology and #genetics/ #genomics are outpacing clinical application (#appliedclinicalgenomics), leading to an unmet need for #translationalgenomics.

Submit an abstract and present at #ISPD2024 - the ISPD International Conference on Prenatal Diagnosis and Therapy. Up to five travel scholarships are available to abstract presenters from low- and middle-income countries. Visit the website to learn more and submit an abstract: https://lnkd.in/gptvxPkp #prenataldiagnosis #fetaltherapy #genomics #genetics

In the ever-evolving field of #genetics, understanding the relationship between genes and diseases is crucial for improving patient care. Join Jennifer Herrera-Mullar to explore the importance of gene-validity scoring, the evolution of GDV frameworks and the future of #GDV curation. https://hubs.ly/Q02DH-K80