Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
Work
Year: 2022
Type: article
Abstract: ObjectiveTo delineate the diagnostic efficacy of medical exome, whole exome, and whole genome sequencing according to primary symptoms, the contribution of small copy number variations, and the impact... more
Source: The Journal of Pediatrics
Institutions Keio University, Osaka Women's and Children's Hospital, Tokyo Metropolitan Children's Medical Center, University of Tsukuba, Ibaraki Children's Hospital +9 more
Cites: 33
Cited by: 14
Related to: 10
FWCI: 2.838
Citation percentile (by year/subfield): 82.14
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
APC paid (est): $4,320
Funders Japan Agency for Medical Research and Development, Mother and Child Health Foundation, Japan Society for the Promotion of Science
Grant IDS JP21gk0110038, R03-K1-12, 21K15873