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
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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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NERDGENE. A new wave in GENOMIC TESTING is here. Here to help you help make informed decisions about you and your family's health through precision medicine. To know more about us, tap the link in bio. 🧬 #NerdGene . . . #genomics #genetics #genomictesting #genetictesting #dna #genome #health
NERDGENE. A new wave in GENOMIC TESTING is here.
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There is no doubt that the field of #genomics is advancing rapidly, with new discoveries appearing seemingly every day that are likely to have a profound impact on how #healthcare is delivered in the future. Although #research is going well, we have yet to see the necessary shifts in #clinicalpractice that will translate these scientific advances into better #patientcare at the #bedside. #genetics #precisionmedicine #translationalmedicine #translationalresearch
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[BLOG] LINE-1 Elements Walk the LINE. Transposable elements served a purpose in human evolution, but these days LINE elements are of interest for their role in disease & #aging. Check out the blog: 🎵 https://bit.ly/48v3qB6 #genomics #genetics #epigenetics #cancerresearch #chromatin
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Very last #DanishDysmophologyMeeting ever! As always, Han Brunner delivers an interesting, fun and insightful talk on why we have the diseases we have! #genetics #clinicalgenetics
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9 News Queensland recently covered the first precision medicine pilot between GeneType and Gold Coast Private Hospital by Healthscope! The goal of this program is to bring a new personalized standard of care to the healthcare system! Watch the full video here: https://ow.ly/yiFA50QfE0J Learn more about Genetic Technologies and view disclosures: https://ow.ly/IyuI50QfE0N #GENE #genetics #predictive
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Check out the post below to learn how we are turning the academic breakthrough of PASTE into the next generation of genomic medicines based on Programmable Genomic Integration (PGI).
In case you missed the announcement at ASGCT, Tome shared our early, but exciting proof-of-concept data in non-human primates! Click through to explore our achievement of therapeutically relevant programmable genomic integration and protein expression in non-human primates. #GeneEditing #NHPs
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Size Selection of PacBio SMRTbell Libraries with the LightBench® instrument from Yourgene Health Precise size selection is essential for maximizing the benefits of highly accurate PacBio® long-read sequencing. The LightBench® from Yourgene Health uses Ranger® Technology to deliver accurate size selection for target enrichment of DNA and includes the ability to perform fragment length analysis for additional quality control. With an automated workflow to optimize walk-away time, the LightBench® offers a scalable size selection solution for the preparation of human gDNA libraries for HiFi sequencing. Read the tech note here: https://hubs.la/Q02lYK0m0 #SizeSelection #PacBioCompatible #DNA #Sequencing #Genomics
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Working on rare diseases? Our DECIPHER database gives you access to publicly available patient data allowing simple phenotypic and genotypic data comparisons. The latest DECIPHER database release covers a host of new features including: ➡️Integration of AlphaMissense scores from Google DeepMind to help you estimate how likely a nucleotide missense variant is to be pathogenic ➡️ Gene pages now link to the Open Targets Platform, facilitating the identification and prioritisation of potential therapeutic targets ➡️New Genome Aggregation Database (gnomAD v4.1) copy nucleotide variation (CNV) genome browser track displaying rare coding autosomal CNVs from exome sequencing of over 450,00 individuals Find out more here 👇 https://lnkd.in/eDFnQbCT #genetics #genomics #bioinformatics #raredisease
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