The invention discloses a multi-gene risk score (hereinafter referred to as PRS or PRS score) operation method for predicting autism and neurodevelopment disorder (hereinafter referred to as disease). The method is characterized by comprising the following steps: merging rare variants (MAFlt; 0.1%) and a common variant (MAFgt; 0.1%) to improve the accuracy of predicting the relative risk of the potential disease of the subject. According to the method, a function loss (LoF) rare variant detected by DNA (Deoxyribose Nucleic Acid) sequencing (including but not limited to NGS/3GS) is used for calculating a gene-based PRS fraction; the score is integrated to an snp-based PRS score of a common variant detected only based on the GWAS at present; therefore, the problems of low variance interpretation (pseudo R2) and low predictive ability of the snp-based PRS score calculated only based on common variants are solved.
Novel polygene risk scoring (PRS) method for predicting autism and neurodevelopmental disorders