Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

Wu, Bingbing; Kang, Wenqing; Wang, Yingyuan; Zhuang, Deyi; Chen, Liping; Li, Long; Su, Yajie; Pan, Xinnian; Wei, Qiufen; Tang, Zezhong; Li, Yangfang; Gao, Jin; Cheng, Rui; Zhou, Wei; Wang, Zhangxing; Qiu, Gang; Wang, Jian; Yang, Lin; Zhang, Ping; Zhao, Xuemei; Wang, Yao; Gan, Mingyu; Li, Gang; Liu, Renchao; Ni, Qi; Xiao, Feifan; Yan, Kai; Cao, Yun; Lü, Guoping; Lu, Yulan; Wang, Huijun; Zhou, Wenhao

doi:10.1097/ccm.0000000000005052

Public

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

Published in Critical Care Medicine • May 3, 2021

Authors:

Bingbing Wu

Wenqing Kang

Yingyuan Wang

Abstract

OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and...

Subject

Medicine

Proband

Exome sequencing

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