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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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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2019
Konular:
Online Erişim: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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