Successes in neuroscience using a genetics-first approach to characterizing disorders such as autism have eclipsed the scientific and clinical value of a comprehensive phenotype-first-clinical or molecular-approach. Recent high-throughput phenotyping techniques using machine learning, electronic medical records, and even administrative databases show the value of a synthesis between the two approaches.
Keywords: autism; electronic health record; endophenotypes; genetics-first; phenome-wide study; phenotyping; real-world data.
Copyright © 2021. Published by Elsevier Inc.