Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Diagnostic genome-wide sequencing (exome or genome sequencing and data analysis for high-penetrance disease-causing variants) in acutely ill infants appears to be clinically useful, but the value of this diagnostic test should be rigorously demonstrated before it is accepted as a standard of care. T...

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Detalles Bibliográficos
Autores principales: Friedman, Jan M., Bombard, Yvonne, Cornel, Martina C., Fernandez, Conrad V., Junker, Anne K., Plon, Sharon E., Stark, Zornitza, Knoppers, Bartha Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Special Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752673/
https://www.ncbi.nlm.nih.gov/pubmed/29895853
http://dx.doi.org/10.1038/s41436-018-0055-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752673/
https://www.ncbi.nlm.nih.gov/pubmed/29895853
http://dx.doi.org/10.1038/s41436-018-0055-z

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