作者
Alison M Elliott, Christèle du Souich, Anna Lehman, Ilaria Guella, Daniel M Evans, Tara Candido, Leah Tooman, Linlea Armstrong, Lorne Clarke, William Gibson, Harinder Gill, Pascal M Lavoie, Suzanne Lewis, Margaret L McKinnon, Sarah M Nikkel, Millan Patel, Alfonso Solimano, Anne Synnes, Joseph Ting, Margot van Allen, Jan Christilaw, Matthew J Farrer, Jan M Friedman, Horacio Osiovich
发表日期
2019/8/1
期刊
European Journal of Pediatrics
卷号
178
页码范围
1207-1218
出版商
Springer Berlin Heidelberg
简介
Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole genome or exome sequencing (ES)), due to its diagnostic capabilities and immediate impacts on medical management, is becoming an appealing testing option in the NICU setting. RAPIDOMICS was a trio-based rapid ES pilot study of 25 babies with suspected genetic disorders in the BC Women’s Hospital NICU. ES and bioinformatic analysis were performed after careful patient ascertainment. Trio analysis was performed using an in-house pipeline reporting variants in known disease-causing genes. Variants interpreted by the research team as definitely or possibly causal of the infant’s phenotype were Sanger validated in a clinical laboratory. The average time to preliminary diagnosis was 7.2 days. Sanger validation was pursued in …
学术搜索中的文章
AM Elliott, C du Souich, A Lehman, I Guella, DM Evans… - European Journal of Pediatrics, 2019