Increasing clinical utility of prenatal exome sequencing: the potential power of phenotype-driven Artificial Intelligence analysis
Suerink M; Hoffer M; Dingemans A; Feenstra I; Heijligers M; Westra D; Yntema H; Astuti G · 2026 · Preprint
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Abstract 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…
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Metadata source: Europe PMC · DOI 10.21203/rs.3.rs-9634215/v1