The Study Of The Genetic Diagnosis Analysis Cloud Platform To Improve The Diagnosis Rate Of Monogenetic Diseases

Objective:We prospect of breaking the limitation of the divorce of the biologic imformation and clinical manifestions in the traditional model by discussing the study which The Genetic Diagnosis Analytic Cloud Platform offered by other genetic diagnosis firm to improve the diagnosis rate of monogenetic disease.Methods:Firstly,we retrieve 123 children which who used to have a Whole Exome Sequencing(WES)in the rehabilitaion department of our hospital during the period from 2016.07.19 to 2017.05.08.Then classify all of them according to the clinical symptoms keywords such as developmental disorder,dystonia,seizures(or electroencephalogram abnormality),developmental malformation and change in MRI.Finally,we statistical analysis of the difference between before and after of making through the cloud platform which based on the precise diagnosis rate of the monogenetic diseases by using the SPSS sofrware.Results:The precise diagnosis of the traditional analytic mode is 36 in123 cases,accounted for 29.27%.Meanwhile clinician make comparisonthe chosen locus given by the cloud platform with the clinical informations,which 17 in 41 cases was diagnosed,made up 41.46%.The differences between the two groups have statistical significance(P < 0.05).Conclusion:Using the genetic diagnosis analytic cloud platform can promote the precise diagnosis rate of monogenic diseases,thereby promote the precise diagnosis rate and enhance the treatment.