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P156: Genomic Disease Contribution for Unknown Causes of Infant Mortality Via Genome Sequencing of Newborn Dried Blood Spots and Semiautomated Interpretation*

Genetics in Medicine Open(2024)

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Abstract
Quantitative understanding of the causes of infant mortality shapes public health, surveillance, and research investments. However, the contribution of single-locus genetic diseases to infant mortality is poorly understood. Previously, we reported that 46 out of 112 (41%) infant deaths within a large pediatric hospital system in San Diego (SD) County, CA, were associated with genetic diseases using whole genome sequencing (WGS) and phenotype-assisted semiautomated interpretation. Here we report initial results of WGS and semiautomated interpretation of a larger population cohort of infant deaths from SD.
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