Article
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
American journal of medical genetics. Part A - 1 Nov 2024
Bard Angela M, Clark Lindsay V, Cosgun Erdal, Aldinger Kimberly A, Timms Andrew, Quina Lely A, Ferres Juan M Lavista, Jardine David, Haas Elisabeth A, Becker Tatiana M, Pagan Chelsea M, Santani Avni, Martinez Diego, Barua Soumitra, McNutt Zakkary, Nesbitt Addie, Mitchell Edwin A, Ramirez Jan-Marino
Abstract excerpt
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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.