• Mashup Score: 1

    University of Toronto (U of T) researchers have found that cancer cells can enhance tumor growth by hijacking enhancer DNA normally used when tissues and organs are formed. The mechanism, called enhancer reprogramming, occurs in bladder, uterine, breast and lung cancer, and could cause these types of tumors to grow faster in patients. Published in the journal Nucleic Acids Research, the results also pinpoint the role that specific proteins play in regulating the enhancer region which may lead to improved treatments for these cancer types.

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    • Researchers find a #Cancer enhancer in the #Genome that drives tumor cell growth @UofTNews #CancerCells #HumanGenomes #MolecularGenetics https://t.co/sQW1UARZNt

  • Mashup Score: 1

    Nature Genetics – A modified framework leveraging a protein language model (ESM1b) is used to predict all possible 450 million missense variant effects in the human genome and shows potential for…

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    • THIS ROCKS: #Genome-wide prediction of #disease variant effects with a deep protein language model https://t.co/X6IwVMRHvv #Genetics #Genomics #ClinVar #HGMD Advancing #variant effect prediction using protein language models https://t.co/KuI085HUJ4 #pathogenic #SNV/#SNP… https://t.co/lT0TnZv0EK https://t.co/cwI5AWqxqb

  • Mashup Score: 3
    Press Release - 9 month(s) ago

    Alliance aims to accelerate therapeutic development and expand the diversity of genomic data through inclusion of more samples from currently underrepresented ancestries , /PRNewswire/ — Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, in collaboration with Nashville Biosciences, LLC, a leading clinical and genomic data company…

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    • What do you get when you combine 250,000 WGS with 20 years of structured clinical data? You get The Alliance for Genomic Discovery with partners including @abbvie, @AstraZeneca, @Bayer, @Merck, @NashvilleBio, and @illumina. Welcome to the #genome era! https://t.co/8p9NtYrEod

  • Mashup Score: 0

    In this Review, the authors summarize the current evidence for the use of genomic sequencing in newborn screening for rare diseases. As several large-scale studies launch internationally, the authors discuss major challenges and opportunities that lie ahead and identify key research priorities.

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    • Rare diseases are a global #PublicHealth priority. With an estimated 300 million affected individuals worldwide, rare diseases are a leading cause of #child mortality & disability in high-income countries. #ImpSci #Newborn #Screening #Genome Read review: https://t.co/C7Mf2WRVwU https://t.co/DuiqVHd0MX