A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
一项关于单例和三例快速基因组和外显子组测序在患病婴儿中分析和诊断性能的随机对照试验
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.08.009
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