Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Mallory J. Owen, MB, ChB1,2; Meredith S. Wright, PhD1; Sergey Batalov, MS1; et al

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.