GeneticsClinical GeneticsPeer-reviewed
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…·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%.
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