イベント情報
オンラインセミナー【GIR公開セミナー】Dr. Mohammed Elsayed Elasrag / バーミンガム大学（英国）
| 日時 | 2023.7.13（17：00～18：00） |
|---|---|
| 会場 |
ミーティングID：816 7796 8142 パスコード：2rE3gk |
| Google Classroom コード | 734rnoz |
| 講演者 | Dr. Mohammed Elsayed Elasrag |
| 所属機関 | バーミンガム大学 （英国） |
| 講演タイトル | "Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Precision Medicine" ＜講演要旨＞ Complex genetic disorders are a clinically heterogeneous group of human diseases that result from mutations in more than one gene. Genetic diagnosis of these diseases has, until recently, been hampered by the lack of suitable technologies to perform high throughput screening. This seminar describes different strategies for using next-generation sequencing (NGS) in patients to find the pathogenic mutation(s) involved. The first part will discuss the customised capture reagent that was used in NGS analysis of different families to identify the disease-causing mutations, then will talk about whole-exome and whole genome NGS without pre-screening of known genes, in patients with atypical adult-onset genomic diseases with a new discovery of DRAM2 as a novel gene for Retinal disease. The last part will talk about multimodal Omics generated from clinical and basic sciences in close collaboration with domain experts across Europe, carrying out cutting-edge techniques such as nanopore sequencing, novel (GRO- Seq, Hi-C/4C/Pore-C, CAGE-Seq), and single-cell sequencing (10X Chromium), as well as more conventional DNASeq and RNAseq. Methods for analysis of many complexes, novel forms of next-generation sequencing data unique to our facility in Genomics Birmingham in the United Kingdom, will be discussed. The relative merits of each approach will be discussed. Identifying the pathogenic mutation facilitates counselling, and carrier testing that may lead to a more precise prognosis. It may also influence future prospects for these patients as new treatments become available. |
| 言語 | 英語 |
| 対象 | どなたでも、ご参加いただけます。 |
| 共催 | グローバルイノベーション研究院 ライフサイエンス分野 臼井チーム 卓越大学院プログラム |
| お問い合わせ窓口 | グローバルイノベーション研究院・農学研究院 臼井 達哉 e-mail: fu7085 (ここに@ を入れてください) go.tuat.ac.jp |
| 備考 | ※本セミナーはZoomにてご参加いただけます。 後日、Google Classroomでも公開いたします。 |
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