SYSTEMS AND METHODS FOR DETECTION OF GENOMIC VARIANTS

摘要

The invention relates to the detection of genomic variants using next generation sequencing platforms, and increasing the positive predictive value and/or sensitivity of detection. The invention relates to methods and systems for detecting the presence or absence of at least one specific genetic variant, including an allelic variant, in a biological sample. Accurately detecting genetic variants can lead to more accurate diagnosis, prognosis, treatment, and/or prevention of various conditions and disease, including cancer.