Enhancing Clinical Applications Through the Evaluation of Sensitivity and Specificity in Whole Exome Sequencing

This project is to estimate sensitivity and specificity of Whole Exome Sequencing (WES) results from various companies. Reference standards were prepared with various genomic DNA mixtures of Hydatidiform mole cell line and human blood genomic DNA from an individual. The reference standards were sent to each company (AA, BB, and CC). Variants were analyzed by each company's bioinformatic method, from which sensitivity and specificity of NGS were estimated in the method of the present study. The variant analyses from the raw sequencing data were also performed by Illumina Dragen system, from which sensitivity and specificity of NGS were estimated.