Professor, Principal Investigator, Division of Pediatrics, Graduate School of Medicine, Kobe University, Japan
BIOGRAPHY
AUG 25, 2022 9:50 AM +08
Comprehensive Gene Screening for Inherited Kidney Diseases Using Targeted Sequencing and Custom Array CGH
Presented at:
Ignite Summit Series 2022
Speaker
Abstract
Recent advances in gene analysis technology have been remarkable, and many technologies that can be easily introduced in each in-house laboratory have been developed. Especially a comprehensive gene panel analysis using targeted sequences is a cost-effective and powerful tool for gene screening. In addition, we can screen copy number variations (CNVs) by pair analysis using targeted sequence data. Moreover, when CNVs are suspected, custom array CGH can detect the exact range of CNVs. These genetic analysis tools have enabled us to diagnose almost all inherited kidney diseases. In this lecture, I will explain how practical these techniques are in clinical practice by giving examples.
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