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Abstract

July - September 2024 | Vol. 17 | Issue 3 | 28-30
Applications of Artificial Intelligence (AI) in Medical Genetics: From Patient Counseling to Training of Students.
Dr Pooja Motwani
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India
Address for Correspondence Email: pjmotwani1@gmail.com
 
Abstract
Human Phenotype Ontology (HPO)-based phenotypic descriptions for whole genome sequencing (WGS) in the neonatal intensive care unit (NICU) is an established practice. It is done manually and at one or two isolated points of time. Constant vigilance for changes in laboratory results, diagnostic imaging, and clinical trajectories is crucial to identify infants most likely to benefit from WGS. It is labour-intensive and requires experts, making it a bottleneck. Automated clinical natural language processing (CNLP) technologies can help generate structured descriptions from unstructured clinical notes, aiding in triaging neonates for WGS.
 
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