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Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries.

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第一作者： Ulzee,An

第一单位： Computer Science Department, UCLA, Los Angeles, CA, USA. ulzee@cs.ucla.edu.

作者： Ulzee,An ^[1] ; Ali,Pazokitoroudi ^[2] ; Marcus,Alvarez ^[3] ; Lianyun,Huang ^[4] ; Silviu,Bacanu ^[5] ; Andrew J,Schork ^[6] ; Kenneth,Kendler ^[5] ; Päivi,Pajukanta ^[7] ; Jonathan,Flint ^[3] ; Noah,Zaitlen ^[8] ; Na,Cai ^[4] ; Andy,Dahl ^[9] ; Sriram,Sankararaman ^[10]

作者单位： Computer Science Department, UCLA, Los Angeles, CA, USA. ulzee@cs.ucla.edu. ^[1] Computer Science Department, UCLA, Los Angeles, CA, USA. ^[2] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. ^[3] Helmholtz Pioneer Campus, Helmholtz Zentrum München, Neuherberg, Germany.;Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany.;School of Medicine, Technical University of Munich, Munich, Germany. ^[4] Virginia Institute for Psychiatric and Behavioral Genetics and Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA. ^[5] Institute of Biological Psychiatry, Mental Health Center - Sct Hans, Copenhagen University Hospital, Copenhagen, Denmark.;Neurogenomics Division, The Translational Genomics Research Institute (TGEN), Phoenix, AZ, USA.;Section for Geogenetics, GLOBE Institute, Faculty of Health and Medical Sciences, Copenhagen University, Copenhagen, Denmark. ^[6] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Institute for Precision Health, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. ^[7] Neurology Department, UCLA, Los Angeles, CA, USA. ^[8] Section of Genetic Medicine, University of Chicago, Chicago, IL, USA. ^[9] Computer Science Department, UCLA, Los Angeles, CA, USA. sriram@cs.ucla.edu.;Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. sriram@cs.ucla.edu.;Department of Computational Medicine, UCLA, Los Angeles, CA, USA. sriram@cs.ucla.edu. ^[10]

医学主题词人类(Humans);全基因组关联研究(Genome-Wide Association Study);基因型(Genotype);生物标本库(Biological Specimen Banks);多态性, 单核苷酸(Polymorphism, Single Nucleotide);表型(Phenotype)

DOI 10.1038/s41588-023-01558-w

PMID 37985819

发布时间 2025-11-17

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