Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing
Angela M. Bard,
Lindsay V. Clark,
Erdal Cosgun
et al.
Abstract:The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences. Variants of interest were identified in 88 genes, in 64.6% of our cohort. Seventy‐three of these have been previously associated with SIDS/SUID/SUDP. … Show more
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