High‑Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population  

作　　者：Tiantian Xiao Xinran Dong Yulan Lu Wenhao Zhou 

机构地区：[1]Division of Neonatology,Children’s Hospital of Fudan University,National Children’s Medical Center,399 Wanyuan Road,Shanghai 201102,China [2]Center for Molecular Medicine,Pediatric Research Institute,Children’s Hospital of Fudan University,National Children’s Medical Center,Shanghai 201102,China [3]Department of Neonatology,Chengdu Women’s and Children’s Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu 610000,China

出　　处：《Phenomics》2023年第2期204-215,共12页表型组学（英文）

基　　金：funded by project supported by the Ministry of Science and Technology National Key Research and Development Program(Grant No.2020YFC2006402);project supported by Shanghai Municipal Science and Technology Major Project(Grant No.2017SHZDZX01).

摘　　要：Advances in genomic medicine have greatly improved our understanding of human diseases.However,phenome is not well understood.High-resolution and multidimensional phenotypes have shed light on the mechanisms underlying neonatal diseases in greater details and have the potential to optimize clinical strategies.In this review,we first highlight the value of analyzing traditional phenotypes using a data science approach in the neonatal population.We then discuss recent research on high-resolution,multidimensional,and structured phenotypes in neonatal critical diseases.Finally,we briefly introduce current technologies available for the analysis of multidimensional data and the value that can be provided by integrating these data into clinical practice.In summary,a time series of multidimensional phenome can improve our understanding of disease mechanisms and diagnostic decision-making,stratify patients,and provide clinicians with optimized strategies for therapeutic intervention;however,the available technologies for collecting multidimensional data and the best platform for connecting multiple modalities should be considered.

关 键 词：Multidimensional phenotype Neonatal phenome Personalized medicine Neonatal diseases 

分 类 号：R722.1[医药卫生—儿科]