MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

Abstract Identifying critically ill newborns who will benefit from whole genome sequencing (WGS) is difficult and time-consuming due to complex eligibility criteria and evolving clinical features. The Mendelian Phenotype Search Engine (MPSE) automates the prioritization of neonatal intensive care un...

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Main Authors: Bennet Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves Lussier, Martin Tristani-Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen F. Kingsmore, Matthew N. Bainbridge, Mark Yandell
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00506-3
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