Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

BACKGROUND: Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with th...

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Detalles Bibliográficos
Autores principales: DeCristo, Daniela M., Milko, Laura V., O’Daniel, Julianne M., Foreman, Ann Katherine M., Mollison, Lonna F., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008582/
https://www.ncbi.nlm.nih.gov/pubmed/33781310
http://dx.doi.org/10.1186/s13073-021-00867-1

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