Pathogenicity scoring system for human clinical genetics

摘要

Methods and systems are provided for determining the clinical significance of genetic variants. The method involves: (a) a functional score based on the mutant's known effect on the biological function of the cell or protein; (b) a frequency score based on the frequency of the mutant in the population; A co-occurrence score based on whether the variant co-occurs with a reference variant with known clinical significance associated with the clinical disease or condition, and (d) how the variant is separated from the disease or condition in the family A step of determining an in-family segregation score based on whether or not a function score, a frequency score, a co-occurrence score and an intra-family segregation score are aggregated on a computer, and a clinical significance score indicating the clinical significance of the genetic variant is obtained. Generating step. [Selection] Figure 1