Strategic validation of variants of uncertain significance in ECHS1 genetic testing

Nowadays, genetic testing can provide an accurate diagnosis for hereditary disorders in general practice. Currently, the accumulation of variants of unknown significance (VUSs) during genetic testing is a major problem and rate-limiting step in genetic diagnosis. This study provides a novel and high-throughput methodology to solve this problem and promotes rapid evaluations of VUSs. Further comprehensive analysis of RNA and proteins in conjunction with DNA can also provide a faster and more accurate diagnosis. Although this study focuses on ECHS1 gene, this is a scalable methodology that can be extended to other mitochondrial diseases or inborn errors of metabolism. (By Dr. Yasushi Okazaki, https://jmg.bmj.com/content/early/2023/04/12/jmg-2022-109027 )

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