[카테고리:] 블로그 (Blog)

Recently, Next Generation Sequencing (NGS) technology such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) has been increasingly used for the diagnosis of patients with rare diseases. By WES, about 80,000 to 100,000 genetic variants can be found per person. ACMG Standards and Guidelines are followed for variant interpretation and prioritization to ultimately identify one or two…