An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

OBJECTIVE: To assess the performance of a standardized age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening (NBS), and compare it with the results from other contemporary methods. STUDY DESIGN: The North Carolina Newborn Exome Sequencing for U...

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I publikationen:J Pediatr
Huvudupphovsmän: Milko, Laura V., O’Daniel, Julianne M., DeCristo, Daniela M., Crowley, Stephanie B., Foreman, Ann Katherine M., Wallace, Kathleen E., Mollison, Lonna F., Strande, Natasha T., Girnary, Zahra S., Boshe, Lacey J., Aylsworth, Arthur S., Gucsavas-Calikoglu, Muge, Frazier, Dianne M., Vora, Neeta L., Roche, Myra I., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6535354/
https://ncbi.nlm.nih.gov/pubmed/30851990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2018.12.027
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