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Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil

23 Jan 2024

Abstract excerpt

In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the Brazilian healthcare system. The cohort presented here results from a joint collaboration between private and public hospitals in Brazil considering the initiative of a clinical laboratory to provide timely diagnosis for...

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PMID: 38258498
DOI: 10.1002/ajmg.a.63544

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