Event
Online【GIR Open Seminar】 Dr. Mohammed Elsayed Elasrag / University of Birmingham (U.K.)
| Date | 2023.7.13 (17：00 - 18：00) |
|---|---|
| Venue |
Meeting ID:816 7796 8142 Passcode:2rE3gk |
| Google Classroom Code | 734rnoz |
| Speaker | Dr. Mohammed Elsayed Elasrag |
| Affiliation | University of Birmingham (U.K.) |
| Title | "Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Precision Medicine" ＜Abstract＞ 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. |
| Language | English |
| Intended for | Everyone is welcome to join. |
| Co-Organized by | Institute of Global Innovation Research ”LIFE SCIENCE” Usui Team Excellent Leader Development for Super Smart Society by New Industry Creation and Diversity |
| Contact | Institute of Global Innovation Research, Institute of Agriculture Assoc. Prof. Tatsuya Usui e-mail: fu7085(at)go.tuat.ac.jp |
| Remarks | ※On-line Seminar via Zoom (Video streaming through Google Classroom later.) |
このページの上部へ