A Comprehensive Diagnosis Method Of Genetic Disease Based On NGS Data And Public Medical Databases

Genetic disease is a genetic problem caused by one or more abnormalities in the genom.Genetic diseases with high frequency could be detected with traditional prenatal diagnosis and family history.But the risk of rare genetic diseases still remains after these detections.Fortunately,the development of Next-Generation Sequencing(NGS)technology expands the detection to a larger scale.NGS can generate massive genetic variants data,which might cause genetic diseases.But diagnosis could not be processed only based on genetic variants,further evident with phenotypes from public databases could be used to evaluate these genetic variants.Public databases such as OMIM and Med Gen can provide gene and phenotype infor mation,which improve the accuracy of diagnoses.To address the issues in diagnosis of rare genetic diseases,we process our research in analysis on NGS data,analysis on genetic variants,public databases integration,and annotation analysis.And develop a compressive method on genetic disease diagnosis,with high speed,high sensitivity and user-friendly interface.