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A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES, respectively) in seriously ill infants with diseases of unknown etiology. Here we report comparisons of analytic...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Kingsmore, Stephen F., Cakici, Julie A., Clark, Michelle M., Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N., Carroll, Jeanne, Caylor, Sara A., Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I., Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S., Dimmock, David
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817534/
https://ncbi.nlm.nih.gov/pubmed/31564432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.08.009
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