Article
Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.
International journal of molecular sciences - 10 Dec 2024
Moon Youngbeen, Hong Chung Hwan, Kim Young-Ho, Kim Jong-Kwang, Ye Seo-Hyeon, Kang Eun-Kyung, Choi Hye Won, Cho Hyeri, Choi Hana, Lee Dong-Eun, Choi Yongdoo, Kim Tae-Min, Heo Seong Gu, Han Namshik, Hong Kyeong-Man
Abstract excerpt
The cost-effectiveness of whole exome sequencing (WES) remains controversial due to variant call variability, necessitating sensitivity and specificity evaluation. WES was performed by three companies (AA, BB, and CC) using reference standards composed of DNA from hydatidiform mole and individual blood at various ratios. Sensitivity was assessed by the detection rate of null-homozygote (N-H) alleles at expected...
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