23
2024
-
05
Whole exome gene testing
Project Introduction
There are approximately 180000 exons in humans, distributed across approximately 22000 genes, accounting for less than 2% of the human genome, but containing the vast majority of pathogenic mutations (about 85%). Whole Exome Sequencing (WES) refers to the use of sequence capture technology to capture and enrich the DNA in the exon regions of the entire genome, and then perform high-throughput sequencing to directly discover genetic variations related to protein functional changes. This test will be based on WES sequencing data, combined with relevant public and local databases, to analyze genetic variations in exons that cause ophthalmic genetic diseases and syndromes with ophthalmic symptoms.
Intended for
All suspected patients with monogenic genetic diseases, pay attention to the population at their own genetic risk
Patients with difficult prognosis judgment who require clear diagnosis and precise treatment plan selection
Patients with multi system complex diseases and syndromes with strong clinical phenotype heterogeneity, complex etiology, and difficulty in routine diagnosis
Family genetic disease patients who have been detected by the system panel but have not yet been diagnosed
Patients and their relatives who have a family with a confirmed genetic disease and plan to have a second child for genetic counseling
Project advantages
Wide coverage
Effectively covering the exon regions and ± 20 bp intron regions of over 22000 genes.
High cost-effectiveness
Specifically targeting the acquisition of effective data from exon regions, WES is more economical, efficient, and suitable for clinical applications and basic research compared to Whole Genome Sequencing (WGS); Compared with target region capture sequencing, WES detection of pathogenic variants in exons is more comprehensive.
CNV prediction
Based on the self-developed bioinformatics analysis process, predict CNV and further improve the detection rate.
Project Process
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CHIGENOVO Co., Ltd. is an ophthalmic gene therapy company, a national high-tech enterprise focusing on genetic diagnosis of genetic eye diseases and the development of gene therapy drugs. It is committed to providing "one-stop" services for patients with genetic eye diseases.
HUATAO GROUP
Contact us
Telephone:400-6006223 010-82071936
Website:en.chinagene.cc
Address: Floor 4, Area D, Building 1, No.27 Life Garden Road, Zhongguancun Life Science Park, Changping District, Beijing
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