Article

MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admission

2024-11-05

Abstract excerpt

<h4>Background</h4> Identifying patients who would benefit from whole genome sequencing (WGS) is difficult and time-consuming due to complex eligibility criteria, lack of neonatologist familiarity with WGS ordering, and evolving clinical features. In previous work, we showed that MPSE, the Mendelian Phenotype Search Engine, can provide automated prioritization of probands for WGS while maintaining current diagnost...

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Literature Corpus work: bca8d650-e4fd-521d-a761-5da01e0f1054
DOI: 10.1101/2024.11.05.24316150

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