REPORT INTERPRETATION METHOD AND SYSTEM FOR STRUCTURAL VARIATIONS IN SAMPLE DATA OF PATIENT

摘要

A report interpretation method and system for structural variations in sample data of a patient, which may accurately interpret sample data of patients, and improve interpretation efficiency while reducing the report interpretation threshold. The method comprises: acquiring sample data to be tested of a patient; comparing a gene sequence to a reference baseline, detecting a plurality of structural variations in the sample data and annotating same one by one, and obtaining the pathogenicity classification of each structural variation according to the annotation results; constructing a gene recommendation list by grabbing relevant disease genes from public databases and literature databases according to the disease names and/or clinical features in feature set I; traversing feature set A corresponding to each standard disease name in a feature relation database, calculating a set similarity value of each of feature set A and feature set I separately, and recommending a plurality of standard disease names according to the size of the similarity values; and outputting the plurality of structural variations in descending order on the basis of the importance of influencing factors corresponding to the structural variations, and generating an interpretation report.