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

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 ascertain pre...

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Bibliographic Details
Main Authors: Biffi, A. (Author), Duncan, C.N (Author), Furutani, E. (Author), Gold, J. (Author), Gold, N.B (Author), Green, R.C (Author), Harrison, S.M (Author), Lehmann, L.E (Author), Rowe, J.H (Author), Shimamura, A. (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
genomic screening
newborn screening
penetrance
rare disease
stem cell transplant
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