Tag: Classification standard

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

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 […]