Describes the development and testing of an automated Newborn Screening assay benchmarked against results from 454,707 subjects from the UK Biobank
In this abstract, Rady's compares results from their newborn screening platform, BeginNGS to rapid Whole genome sequencing results in the NICU and finds good sensitivity between the 2 methods.
A comparison of outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test shows high sensitivity for the panel screening approach
In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments positively associated with outcomes were available for 30% of these genetic diseases.
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