Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.

Mallory J Owen,Meredith S Wright,Sergey Batalov,Yonghyun Kwon,Yan Ding,Kevin K Chau,Shimul Chowdhury,Nathaly M Sweeney,Elizabeth Kiernan,Andrew Richardson,Emily Batton,Rebecca J Baer,Gretchen Bandoli,Joseph G Gleeson,Matthew Bainbridge,Christina D Chambers,Stephen F Kingsmore

JAMA network open（2023）

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摘要

In this cohort study of 112 infant deaths, the association of genetic diseases with infant mortality was higher than previously recognized. Strategies to increase neonatal diagnosis of genetic diseases and immediately implement treatment may decrease infant mortality. Additional study is required to explore the generalizability of these findings and measure reduction in infant mortality.

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infant mortality,etiology,whole-genome

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