O27: Diagnostic yield and clinical utility of rapid genome sequencing in an unrestricted NICU cohort
Year: 2026
Type: conference-abstract
Abstract: Rapid genome sequencing (rGS) is increasingly becoming standard practice for critically ill neonates due to its impressive turnaround time and diagnostic yield. As part of a broader study to develop and validate an in-house rGS assay, a cohort of neonates clinically consented for commercial rGS were also consented for an ancillary blood draw for test development and study of healthcare outcomes. Here, we report the diagnostic yield and clinical utility of rGS in the Nationwide Children’s Hospital NICU.
Source: Genetics in Medicine Open
Authors: Emily Hrach, Allison Daley, Bimal Chaudhari
Institution: Nationwide Children's Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W7133686707
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