BioinformaticsbioRxivPreprint
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…·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.
DOI 10.64898/2026.01.25.701479