Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing

10.1038/s41431-019-0412-7

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Bibliographic Details
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
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Institution: National University of Singapore

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https://scholarbank.nus.edu.sg/handle/10635/173673

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