SYSTEMS AND METHODS FOR PERFORMING AND OPTIMIZING PERFORMANCE OF DNA-BASED NONINVASIVE PRENATAL SCREENS

摘要

A computer-implemented method for optimizing performance of a DNA-based noninvasive prenatal screen includes generating a plurality of synthetic sequencing datasets by, for each of the plurality of synthetic sequencing datasets, (i) generating at least one of a plurality of synthetic copy number variants comprising a synthetic number of copies of at least a portion of a region of interest represented by a synthetic number of sequencing reads from one or more segments within the region of interest, and (ii) modifying a real sequencing dataset, which includes genetic sequencing data from a real test sample comprising maternal and fetal cfDNA, by replacing a number of real sequencing reads from the one or more segments within the region of interest in the real test sample with the synthetic number of sequencing reads. Various other methods and systems are also disclosed.