Genetics disease
Conditions
Interventions
Gold Standard:The variants are assessed as pathogenic or possibly pathogenic by ACMG guidelines, and the inheritance pattern is consistent with the mechanism.
analysis 
and 
system 
on 
Sponsors
Shanghai Children's Medical Center
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Patients who were diagnosed with monogenic disease via genetic test at Shanghai Children's Medical Center from 2015 to 2020.The test items include clinical sequencing based on a 2742 genes panel and whole-exome sequencing; 2. Patients who were negative with genetic sequencing at Shanghai Children's Medical Center from 2015 to 2020.The test items include clinical sequencing based on a 2742 genes panel and whole-exome sequencing.
Exclusion criteria
Exclusion criteria: 1.The patient's raw sequencing data was unqualified by quality control, including Q20reads<95%, Q30reads<85%, coverage depth <100X, comparison number <90%, 30X base number <95%; 2.NGS data from a small panel, such as ophthalmic genetic diseases and deafness genetic diseases panel; 3.Patients who cannot provide complete medical records and original data from other testing institutions.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Positive diagnostic rate;Precision;accuracy;sensitivity;specificity; | — |
Countries
China
Contacts
Public ContactWang Jian
Shanghai Children's Medical Center
Outcome results
None listed