The invention relates to the technical field of
biomedical data analysis, and discloses a
data analysis method and
system for genetic
disease gene detection and a storage medium, and the method comprises the following steps: collecting a patient sample, and carrying out high-
throughput sequencing to obtain
original data; performing
quality control and comparison
processing on the data to generate variation detection data, and calculating variation information amount; suspicious variation sites are automatically screened, variation information amount is analyzed based on information entropy, and key variation is screened according to a preset threshold; performing
Bayesian inference analysis on the key variation, calculating
pathogenicity probability, and performing
pathogenicity judgment based on an ACMG standard; calculating the matching degree of the key variation and the
phenotype in combination with the
phenotype information of the patient, and screening the variation conforming to
phenotype characteristics; submitting the
screening result to a doctor for auditing, and generating a final
screening result; and generating a standardized
gene detection report according to a final result. According to the method, pathogenic variation is efficiently and accurately recognized, and the
automation level and clinical application value of genetic
disease gene detection are improved.