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Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.

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第一作者： Lisa,Bastarache

第一单位： Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: lisa.bastarache@vumc.org.

作者： Lisa,Bastarache ^[1] ; Rory J,Tinker ^[2] ; Bryce A,Schuler ^[3] ; Lucas,Richter ^[4] ; John A,Phillips ^[5] ; William W,Stead ^[6] ; Gillian W,Hooker ^[7] ; Josh F,Peterson ^[6] ; Douglas M,Ruderfer ^[8]

作者单位： Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: lisa.bastarache@vumc.org. ^[1] Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ^[2] Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. ^[3] Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ^[4] Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. ^[5] Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ^[6] Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Concert Genetics, Nashville, TN, USA. ^[7] Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. ^[8]

关键词 clinical genetics clinical genetics database electronic health records genetic test utilization genetic testing phecodes phenome-wide phenotype-genotype correlation rare disease variants of uncertain significance

医学主题词人类(Humans);电子健康病历(Electronic Health Records);基因检测(Genetic Testing);女(雌)性(Female);男(雄)性(Male);表型(Phenotype)

DOI 10.1016/j.ajhg.2025.03.009

PMID 40245861

发布时间 2026-09-08

基金项目

R01 HG012657/HG/NHGRI NIH HHS/United States

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