Quantitative Optimization of Sensitivity and Specificity in Targeted and Whole-Exome Sequencing Using Reference-Standard DNA Mixtures
Youngbeen Moon, Chung Hwan Hong, Jong-Kwang Kim, Eun-Kyung Kang, Hye Won Choi, Dong-Won Hwang, Jae-Hwan Ko, Han-Seong Kim, Dong-eun Lee, Seog-yun Park, Chi Chiu Wang, Young-Ho Kim, Tae-Min Kim, Seong Gu Heo, Namshik Han, Kyeong‐Man Hong
The paper optimizes sensitivity and specificity in targeted and whole-exome sequencing using reference-standard DNA mixtures, identifying optimal pipelines and VAF thresholds to reduce false positives and improve detection.
bioRxiv · Jan 27, 2026 · PreprintBioinformatics