Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

Summary: Hematopoietic stem cell transplant (HSCT) can prevent progression of several genetic disorders. Although a subset of these disorders are identified on newborn screening panels, others are not identified until irreversible symptoms develop. Genetic testing is an efficient methodology to asce...

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Bibliographic Details
Main Authors: Nina B. Gold, Steven M. Harrison, Jared H. Rowe, Jessica Gold, Elissa Furutani, Alessandra Biffi, Christine N. Duncan, Akiko Shimamura, Leslie E. Lehmann, Robert C. Green
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:HGG Advances
Subjects:
stem cell transplant
penetrance
genomic screening
newborn screening
rare disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000403

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http://www.sciencedirect.com/science/article/pii/S2666247721000403

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