Tag: Hereditary eye disease

Interpretation of standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

2023，No. 09, Current Issue, Education, Highlights

Author: Sheng Xunlun DOI: 10.3760/cma.j.cn115989-20230419-00142 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 898-903. Abstract                              【Download PDF】 【Read Full Text】 Sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing (NGS). By adopting NGS, more and more ophthalmologists […]

Clinical phenotype assessment is very important in mutation analysis for patients with hereditary eye disease

2017, No. 08, Editorial

Author: Li Yang DOI: 10.3760/cma.j.issn.2095-0160.2017.08.001 Published 2017-08-10 Cite as Chin J Exp Ophthalmol, 2017,35(8): 673-676. Abstract                              [Download PDF] [Read Full Text] Sanger sequencing technology is the most commonly used method for genetic analysis in inherited eye disease in the past few decades […]