首页> Genetics in medicine : official journal of the American College of Medical Genetics> ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

导出 OA

翻译打印收藏纠错

第一作者： Cole A,Deisseroth

第一单位： Department of Computer Science, Stanford University, Stanford, CA, USA.

作者： Cole A,Deisseroth ^[1] ; Johannes,Birgmeier ^[1] ; Ethan E,Bodle ^[2] ; Jennefer N,Kohler ^[3] ; Dena R,Matalon ^[2] ; Yelena,Nazarenko ^[4] ; Casie A,Genetti ^[5] ; Catherine A,Brownstein ^[5] ; Klaus,Schmitz-Abe ^[5] ; Kelly,Schoch ^[6] ; Heidi,Cope ^[6] ; Rebecca,Signer ^[7] ; Undiagnosed Diseases Network ^[8] ; Julian A,Martinez-Agosto ^[6] ; Vandana,Shashi ^[5] ; Alan H,Beggs ^[9] ; Matthew T,Wheeler ^[10] ; Jonathan A,Bernstein ^[11] ; Gill,Bejerano

作者单位： Department of Computer Science, Stanford University, Stanford, CA, USA. ^[1] Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA. ^[2] Stanford Center for Undiagnosed Diseases, Stanford, CA, USA. ^[3] Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. ^[4] The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. ^[5] Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. ^[6] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. ^[7] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. ^[8] Stanford Center for Undiagnosed Diseases, Stanford, CA, USA.;Department of Medicine, Stanford School of Medicine, Stanford, CA, USA. ^[9] Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA. Jon.Bernstein@stanford.edu. ^[10] Department of Computer Science, Stanford University, Stanford, CA, USA. bejerano@stanford.edu.;Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.;Department of Biomedical Data Science, Stanford University, Stanford, CA, USA. bejerano@stanford.edu.;Department of Developmental Biology, Stanford University, Stanford, CA, USA. bejerano@stanford.edu. ^[11]

关键词 Mendelian disease diagnosis medical genetics natural language processing prioritized disease phenotypes

医学主题词算法(Algorithms);计算生物学(Computational Biology);遗传性疾病, 先天性(Genetic Diseases, Inborn);人类(Humans);病案(Medical Records);自然语言处理(Natural Language Processing);表型(Phenotype)

DOI 10.1038/s41436-018-0381-1

PMID 30514889

发布时间 2022-02-10

基金项目