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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Detalles Bibliográficos
Autores principales: Gold, Nina B., Harrison, Steven M., Rowe, Jared H., Gold, Jessica, Furutani, Elissa, Biffi, Alessandra, Duncan, Christine N., Shimamura, Akiko, Lehmann, Leslie E., Green, Robert C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756496/
https://www.ncbi.nlm.nih.gov/pubmed/35047849
http://dx.doi.org/10.1016/j.xhgg.2021.100059

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