Whole Exome Sequencing for Genetic Diagnosis

The patient was recruited from the Second Affiliated Hospital of Zhejiang University School of Medicine. Clinical data, including cranial image, laboratory tests, and ophthalmic findings were obtained. Genomic DNA was isolated from peripheral EDTA-treated blood with a DNA isolation kit (Qiagen Inc, Valencia, CA, United States). Whole exome sequencing (WES) was performed on an Illumina HiSeq X Ten platform (XY Biotechnology Co. Ltd., Hangzhou, China). Sanger sequencing was performed on an ABI 3500xL Dx Genetic Analyzer (Applied Biosystems) to validate the variants, and the procedure was described previously (11 (link)). The study was approved by the corresponding ethics committee of the local hospital, and informed consent was obtained from the patient.

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Zheng Z.W., Xu M.H., Sun C.B., Wu Z.Y, & Dong Y. (2022). Acute-Onset Visual Impairment in Wilson's Disease: A Case Report and Literature Review. Frontiers in Neurology, 13, 911882.

Publication 2022

DNA isolation kit HiSeq X Ten platform ABI 3500xL Dx Genetic Analyzer

A dna Blood Cranial Edta Genomic Hospital ethics committee Isolation Medicine Ophthalmic findings Patient

Corresponding Organization : Second Affiliated Hospital of Zhejiang University

Top 5 similar protocols

Variable analysis

independent variables

Whole exome sequencing (WES) performed on an Illumina HiSeq X Ten platform

dependent variables

Cranial image
Laboratory tests
Ophthalmic findings

control variables

Genomic DNA isolated from peripheral EDTA-treated blood with a DNA isolation kit (Qiagen Inc, Valencia, CA, United States)
Sanger sequencing performed on an ABI 3500xL Dx Genetic Analyzer (Applied Biosystems) to validate the variants

controls

Positive control: Not specified
Negative control: Not specified

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