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

Stephen F. Kingsmore,Julie A. Cakici,Michelle M. Clark,Mary Gaughran, Michele Feddock,Sergey Batalov,Matthew N. Bainbridge,Jeanne Carroll,Sara A. Caylor,Christina Clarke,Yan Ding,Katarzyna Ellsworth,Lauge Farnaes,Amber Hildreth,Charlotte Hobbs,Kiely James,Cyrielle I. Kint,Jerica Lenberg,Shareef Nahas, Lance Prince,Iris Reyes,Lisa Salz,Erica Sanford,Peter Schols,Nathaly Sweeney,Mari Tokita,Narayanan Veeraraghavan,Kelly Watkins,Kristen Wigby,Terence Wong,Shimul Chowdhury,Meredith S. Wright,David Dimmock, Zaira Bezares,Cinnamon Bloss, Joshua J. A. Braun, Carlos Diaz, Dana Mashburn, Dorjee Tamang, Daniken Orendain, Jenni Friedman, Joe Gleeson,Jaime Barea,George Chiang, Casey Cohenmeyer,Nicole G. Coufal, Marva Evans,Jose Honold, Raymond L. Hovey, Amy Kimball,Brian Lane, Crystal Le,Jennie Le, Sandra Leibel, Laurel Moyer, Patrick Mulrooney, Daeheon Oh,Paulina Ordonez,Albert Oriol, Maria Ortiz-Arechiga,Laura Puckett,Mark Speziale,Denise Suttner,Lucitia Van der Kraan,Gail Knight, Charles Sauer, Richard Song, Sarah White, Audra Wise, Catherine Yamada

The American Journal of Human Genetics（2019）

引用 254|浏览62

关键词

infant,intensive care unit,whole-genome sequencing,whole-exome sequencing,genetic disease,diagnosis,ultra-rapid whole-genome sequencing,genomic medicine,precision medicine

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