OBJECTIVE
Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government-funded cohort, including diagnostic yield, frequency of variants of uncert...
C. Rowntree, Gemma Fernihough, Sarah Long et al.· Prenatal Diagnosis· 0 citations
An autonomous AI agent integrating Reasoning and Acting with Retrieval-Augmented Generation with Retrieval-Augmented Generation is developed to classify 10,211 Human Phenotype Ontology terms, enabling standardized panel design by providing reliable, automated classification supported by direct evidence.
Tohid Ghasemnejad, A. Argha, M. Grosser et al.· 0 citations
Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.
Wafa Bani Uraba, Byoung Chan Lee, S. Mohammad et al.· Developmental Medicine & Chi...· 0 citations
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