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医学セミナー・第15回分子遺伝疫学セミナー/Seminars in Medical Sciences

2017/12/18

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)
     (人見祐基博士,東京大学大学院医学系研究科人類遺伝学分野助教)

Date: December 18, 2017

Time: 17:00-18:15

Venue: Room 483, Institute of Medicine, University of Tsukuba (医学系学系棟483) GooglrMap版へ
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 利用停留所(関東鉄道バス):筑波大学中央行き又は筑波大学循環バス「追越学生宿舎前

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
Mail : tsuchiya#@#md.tsukuba.ac.jp(#@#を 「@」 に置き換えてください)

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