Mendelian inheritance disease
Conditions
Interventions
Gold Standard:Clinical genetic disease panel sequencing and exon high-throughput sequencing
analysis 
and 
system 
for 
data 
of 
Sponsors
Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. From 2015 to 2020, he was diagnosed as genetic disease in Shanghai Children's Medical Center, and the test items included clinical genetic disease panel sequencing and exon high-throughput sequencing; 2. during 2015-2020, he was treated in Shanghai Children's Medical Center, but the clinical diagnosis was not clear, and genetic diagnosis was carried out. The detection items included clinical heritage The panel sequencing and high-throughput sequencing of the whole exon; 3. the high-throughput sequencing was performed by the external hospital or the third-party testing machine, and the detection items included the panel sequencing of clinical genetic diseases and high-throughput sequencing of all exons, and the sequencing data were complete.
Exclusion criteria
Exclusion criteria: 1. The original data of patients were unqualified after quality control, including q20reads < 95%, q30reads < 85%, coverage depth < 100x; 2. Excluding patients with non clinical genetic diseases, such as ophthalmic genetic diseases, deafness genetic disease panel and other small genetic diseases detection high-throughput data; 3. Patients who can not provide complete medical records and other clinical test original data; 4. Other patients who do not meet the requirements.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| positive detection rate;false positive;false negative; | — |
Countries
China
Contacts
Public ContactJian Wang
Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine
Outcome results
None listed