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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Opis bibliograficzny
Wydane w:Am J Hum Genet
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: Elsevier 2019
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Article
Dostęp online: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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