Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

• Main Authors: Tomar, S, Sethi, R, Lai, PS
• Other Authors: PAEDIATRICS
• Format: Article
• Published: Springer Science and Business Media LLC 2020
• Subjects: Genetic Association Studies; Genetic Predisposition to Disease; Humans; Phenotype; ROC Curve; Semantics; Whole Exome Sequencing
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/173673
• Institution: National University of Singapore

10.1038/s41431-019-0412-7