Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders
Go Hun Seo, Tae Ho Kim, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong‐gun Won, Arum Oh, Yena Lee, In Hee Choi, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, , Beom Hee Lee
This study evaluates an automated variant interpretation system for whole exome sequencing, finding it improves diagnostic yield for genetic disorders by 51%.
Clinical Genetics · Sep 14, 2020Peer-reviewedGenetics