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  • Seminar in Medical Sciences: "Approaches to the identification and evaluation of functional disease-causal/susceptible variants in the human genome."

    12 18, 2017

    (This seminar will be held in English)

    Title Approaches to the identification and evaluation of functional disease-causal/susceptible variants in the human genome.
    Speaker Dr. Yuki Hitomi (Assistant Professor, Department of Human Genetics, The University of Tokyo)
    Date / Time December 18, 2017, 17:00-18:15
    Venue Room 483, Institute of Medicine, University of Tsukuba
    Access Take a bus bound for "Tsukuba Daigaku Chuo" or the "University Loop-line On-campus Bus [Tsukuba Daigaku Junkan Bus]" and get off at Oikoshi Gakusei Shukusha Mae.
    This seminar is one of the seminars for the subject “Seminar in Medical Sciences” in Doctoral Programs in Biomedical Sciences and Clinical Sciences. The seminar will be given in English, but questions in Japanese are also welcome.
    This talk will include latest genetics findings in some intractable immune system diseases. THerefore, not only the students and faculty interested in human genetics, but also in immune disorders will find this seminar informative.
    This seminar will NOT be recorded; therefore, be sure to attend if are interested.
    Abstract Any of the genetic variations may cause differences in traits and disease risk. So far, genome-wide association study (GWAS) and next- generation sequencing (NGS) have become indispensable methods for comprehensive screening of disease-causal/susceptible variants in the human genome. However, due to linkage disequilibrium (LD), several single-nucleotide polymorphisms (SNPs) show similar levels of association with the most significantly associated GWAS tag-SNP, especially in the cases of common variants. Inaccuracy of variant calling by current NGS platforms also remains a problem.
    For the identification of disease-causal/susceptible variants from numerous genetic variants in the human genome, evaluation by functional analyses should be performed. By systematic search for the disease causal/susceptible variants including functional analyses, we will come to understand the molecular mechanisms of diseases, establish novel drugs, and develop prediction kits for disease onset and adverse effects using genotyping of the variants.
    In this seminar, I would like to introduce the approaches to the identification and evaluation of functional disease-causal/susceptible variants by comprehensive whole-genome analysis (GWAS and NGS), in silico functional analyses using several valuable computer tools, and in vitro functional analyses. We also discuss the clinical applications of the genetic variants to personalized medicine.
    Contact Naoyuki Tsuchiya, Molecular and Genetic Epidemiology Laboratory
    tsuchiya#@#md.tsukuba.ac.jp
    (Remove "#" from the above e-mail address before sending mail.)

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