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Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Intellectual Disability Clinical Trial

Official title:
Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Clinical Trial Summary

To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases

Clinical Trial Description

This project will recruit 100 rare, undiagnosed pediatric genetic disease families (core families: patients, patients' parents, immediate family members such as brothers and sisters, all of them can be enrolled whether they have disease or not, so generally 3, for a few cases 4 or 5) all over the country. The expert team will review the clinical materials, the molecular team will review the experimental process, and the bioinformatics team will review the chip, the analysis of whole exome sequencing data and screen the samples all over the country;

Whole-genome sequencing of 100 rare, undiagnosed pediatric genetic disease families (Illumina NovaSeq High-throughput Sequencer);

The study will provide preliminarily performance data on the comparison of whole exome data and whole genome data. In addition, it will generate the Chinese Consensus on Clinical Applications of Whole-genome sequencing in the Diagnosis of Birth Defects and Undiagnosed Rare Genetic Diseases in Children based on the statistical analysis of clinical phenotype and genotype association, which could guide the clinical application of pediatrics, laboratory testing and reporting.

Construction of the Chinese detection genome database of genetic disease ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03424772
Study type Observational [Patient Registry]
Source Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Contact Yu Sun, PhD
Phone +86-25-25076466
Email sunyu@xinhuamed.com.cn
Status Recruiting
Phase N/A
Start date January 18, 2018
Completion date March 2019
View Details
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