Estimation of sensitivity and specificity of targeted next generation sequencing results by various NGS service providers with the DNA mixture of Hydatidiform mole and human blood genomic DNA

This project is to estimate sensitivity and specificity of targeted NGS 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, CC, and DD). 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.