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The diversity of Asian genomes

January 26, 2020 – An effort to map thousends of genomes across Asia has certainly the potential to find novel gene variants affecting disease and responses to drugs, and to reveal the complex origins of Asian populations.

In a pilot study,

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Degree of African ancestry may influence gene expression levels

January 26, 2020 – Common belief holds that differences in genes (i.e., allelic variants) in combination with differing frequencies of such allelic variants in populations of different ethnic background may explain the differences in the frequency and/or severity of overt diseases in different ethnic groups and/or populations.

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In Caribbeans cystic fibrosis (CF) is driven by very rare CFTR mutations

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Is laziness a personal choice or a genetic trait?

November 02, 2019 – Is laziness a choice or genetic trait? At the age where genetics seems to explain everything, it is certainly interessant to learn that a seemingly personal choice such as laziness as such may loom somewhere in your genetic outfit. Perhaps, you can not escape your laziness behaviour,

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After an over the counter genetic test: Would you make serious health decisions?

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Hidden secrets in African genomes revealed by large scale sequencing

October 20, 2019 – Sequencing African genomes yields new data resource with broad applicability. By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics.

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Clinical evidence and implementation challenges for pharmacogenomic testing

September 18, 2019 – This post is an edited version of parts of a paper that appeared in the Journal of Personalised Medicine (JPM) a week ago und which addresses one of the important topics in connection with the themes of personalised medicine,

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Staying wakeful for the day: A second short sleep gene identified

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FDA safety communication concerning E-cigarettes

September 05, 2019 – An E-cigarette is a handheld battery-powered vaporizer that simulates smoking by providing some of the behavioral aspects of smoking, including the hand-to-mouth action of smoking, but without burning tobacco. Using an E-cigarette is known as “vaping” and the user is referred to as a “vaper.”

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Variables of prospective response rates of PD-1/PD-L1 based therapies across cancers

August 28, 2019 – Immune checkpoint inhibitor (ICI) therapy is a form of cancer immunotherapy. The therapy targets immune checkpoints, key regulators of the immune system that when stimulated can dampen the immune response to an immunologic stimulus.

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  • Protein AKAP8 suppresses breast cancer metastasis January 27, 2020
    A protein naturally produced in the body has been found to suppress breast cancer metastasis in animal models of human tumors. Researchers led by Baylor College of Medicine also found that high levels of this protein, AKAP8, predicts a better survival for breast cancer patients.
  • The virome of HPV-positive tonsil squamous cell carcinoma and neck metastasis January 27, 2020
    The cover for issue 3 of Oncotarget features Figure 3, "Hierarchical clustering of tonsil squamous cell carcinoma cohorts based on viral signature detection pattern with associated pathological features (perineural invasion (PNI), lymphovascular invasion (LVI), and tumor stage (T stage))," by Carey, et al.
  • Asfotase alfa in hypophosphatasia in childhood/adolescence: Survival benefit for infants January 27, 2020
    Hypophosphatasia (HPP) is a rare congenital metabolic disorder. The frequency of severe courses of disease is estimated at 1:100 000: A deficiency of the enzyme phosphatase results in insufficient mineralization of the bones and thus in severe skeletal malformations. The course of disease varies greatly—the earlier the onset of the disease, the more severe are […]
  • Unrecognized genetic variation in research mouse models can affect immune cells January 27, 2020
    Congenic mouse strains—used for decades in immunology research and assumed to be genetically identical outside of a marker locus—have been found to contain previously unrecognized genetic variation, University of Alabama at Birmingham researchers reported in a study published in the journal Immunity.
  • Genomics experts dispute nine genes linked to congenital heart condition January 27, 2020
    Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be […]
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