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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Publicado en:Genome Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8008582/
https://ncbi.nlm.nih.gov/pubmed/33781310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00867-1
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