Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

• Main Authors: Tomar, S, Sethi, R, Lai, PS
• 其他作者: PAEDIATRICS
• 格式: Article
• 出版: Springer Science and Business Media LLC 2020
• 主題: Genetic Association Studies; Genetic Predisposition to Disease; Humans; Phenotype; ROC Curve; Semantics; Whole Exome Sequencing
• 在線閱讀: https://scholarbank.nus.edu.sg/handle/10635/173673

10.1038/s41431-019-0412-7