Article

Increasing clinical utility of prenatal exome sequencing: the potential power of phenotype-driven Artificial Intelligence analysis

2026-06-17

Abstract excerpt

<title>Abstract</title> <p>Prenatal exome sequencing (pES) is challenging due to rapid turnaround requirements and limited phenotype information. Analysis strategies span gene panels through exome-wide review, with Artificial Intelligence (AI) as optional support. We evaluated how these approaches impact clinical utility of pES. We prospectively included 233 parental-foetal trios. Analysis results from virtual ge...

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Literature Corpus work: 477d13a2-a8ac-5289-bf31-39533ac58a99
DOI: 10.21203/rs.3.rs-9634215/v1

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