Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.

BACKGROUND: Newborn screening (NBS) is an effective public health intervention that reduces death and disability from treatable genetic diseases, but many conditions are not screened due to a lack of a suitable assay. Whole genome and whole exome sequencing can potentially expand NBS but there remai...

Descripción completa

Detalles Bibliográficos

Publicado en:	Clinical Chemistry Vol. 69; no. 8; pp. 890 - 901
Autores principales:	Oh Vic Shum, Bennett, Pretorius, Carel Jacobus, Min Fen Sng, Letitia, Henner, Ilya, Barahona, Paulette, Basar, Emre, McGill, Jim, Wilgen, Urs, Zournazi, Anna, Downie, Lilian, Taylor, Natalie, Cheney, Liam, Wu, Sylvania, Twine, Natalie Angela, Bauer, Denis Carolin, Watts, Gerald Francis, Navilebasappa, Akash, Kumar, Kishore Rajagopal, Ungerer, Jacobus Petrus Johannes, Bennett, Glenn
Formato:	Journal Article
Publicado:	Oxford University Press / USA Aug2023
Acceso en línea:	Ver este registro en EBSCOhost