洞察前沿，连接科研新知

完整作者

MULTI Consortium、Zhiyuan Song、Derek Fong、Naowal Azraf Rahman、Michael R Duggan、Qu Tian、Jian Zeng、Xia Zhou、Chunrui Zou、Michael S Rafii、Li Shen、Paul Thompson、Eleanor M Simonsick、Keenan A Walker、Andrew Zalesky、Christos Davatzikos、Paul Aisen、Luigi Ferrucci、Susan M Resnick、Junhao Wen

作者机构

• Laboratory of AI and Biomedical Science (LABS), Columbia University, New York, NY, USA.
• Intramural Research Program, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.
• Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
• Department of Computer Science, Columbia University, New York, NY, USA.
• Alzheimer's Therapeutic Research Institute, Keck School of Medicine of the University of Southern California, San Diego, CA, USA.
• Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
• Department of Psychiatry, Melbourne Medical School, The University of Melbourne, Melbourne, Victoria, Australia.
• Artificial Intelligence in Biomedical Imaging Laboratory (AIBIL), Center for AI and Data Science for Integrated Diagnostics (AI2D), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• Laboratory of AI and Biomedical Science (LABS), Columbia University, New York, NY, USA. junhao.wen89@gmail.com.
• Department of Computer Science, Columbia University, New York, NY, USA. junhao.wen89@gmail.com.
• Department of Radiology, Columbia University, New York, NY, USA. junhao.wen89@gmail.com.
• Department of Biomedical Engineering, Columbia University, New York, NY, USA. junhao.wen89@gmail.com.
• New York Genome Center (NYGC), New York, NY, USA. junhao.wen89@gmail.com.

技术路线

多组织/多组学数据 → 按性别分层训练38个生物学衰老时钟（15个器官系统）

最近 5 个完整年度引用趋势

完整作者

Li Zhang、Georg Wölflein、Dyke Ferber、Junhao Liang、Zunamys I Carrero、Xuewei Wu、Julien Vibert、Jan Clusmann、Lino Möhrmann、Elena E Möhrmann、Catharina Wichmann、Fabian Wolf、Tim Lenz、Jakob Nikolas Kather

作者机构

• Else Kroener Fresenius Center for Digital Health, Faculty of Medicine, TUD Dresden University of Technology, Dresden, Germany.
• Medical Oncology, National Center for Tumor Diseases (NCT), University Hospital Heidelberg, Heidelberg, Germany.
• Department of Radiology, The First Affiliated Hospital of Jinan University, Guangzhou, China.
• Drug Development Department, Gustave Roussy, Villejuif, France.
• Université Paris-Saclay, Gustave Roussy, INSERM U981, IHU PRISM, Villejuif, France.
• Department of Medicine I, Faculty of Medicine, TUD Dresden University of Technology, Dresden, Germany.
• Department of Gynecology and Obstetrics, Faculty of Medicine, TUD Dresden University of Technology, Dresden, Germany.
• Else Kroener Fresenius Center for Digital Health, Faculty of Medicine, TUD Dresden University of Technology, Dresden, Germany. kather.jn@tu-dresden.de.
• Medical Oncology, National Center for Tumor Diseases (NCT), University Hospital Heidelberg, Heidelberg, Germany. kather.jn@tu-dresden.de.
• Department of Medicine I, Faculty of Medicine, TUD Dresden University of Technology, Dresden, Germany. kather.jn@tu-dresden.de.
• Pathology & Data Analytics, Leeds Institute of Medical Research at St. James's, University of Leeds, Leeds, UK. kather.jn@tu-dresden.de.

技术路线

数据/样本：两个基于MIMIC-IV的基准（七疾病任务和四疾病任务） → 分析：开发并评估一个完全本地部署的临床智能体，耦合本地操作控制与多视角可靠性框架；量化诊断和推理的内部似然、语言和行为稳定性指标；评估诊断正确性的判别能力（AUC）及压力测试下的信息性；设定一致性阈值评估保留病例比例及诊断准确率

最近 5 个完整年度引用趋势

完整作者

Tony Chen、Haoyu Zhang、Rahul Mazumder、Xihong Lin

作者机构

• Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
• Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
• Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. haoyu.zhang2@nih.gov.
• Operations Research and Statistics Group, Sloan School of Management, Massachusetts Institute of Technology, Cambridge, MA, USA. rahulmaz@mit.edu.
• Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. xihong_lin@harvard.edu.
• Department of Statistics, Harvard University, Cambridge, MA, USA. xihong_lin@harvard.edu.

技术路线

数据/样本：All of Us研究项目（n=224,364）与UK Biobank（n=340,140）个体级数据，无祖先标签；分析：提出SPLENDID惩罚回归框架，将遗传祖先建模为连续变量，构建单一预测模型；验证：通过广泛模拟及两个生物样本库数据的分析，与现有方法比较预测准确性。

最近 5 个完整年度引用趋势

完整作者

Kristin Tsuo、Zhuozheng Shi、Tian Ge、Ravi Mandla、Kangcheng Hou、Yi Ding、Bogdan Pasaniuc、Ying Wang、Alicia R Martin

作者机构

• Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. ktsuo@broadinstitute.org.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ktsuo@broadinstitute.org.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ktsuo@broadinstitute.org.
• Graduate Program in Genomics and Computational Biology, University of Pennsylvania, Philadelphia, PA, USA.
• Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
• Center for Precision Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
• Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
• Division of Population Sciences, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.
• Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. yiwang@broadinstitute.org.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. yiwang@broadinstitute.org.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. yiwang@broadinstitute.org.
• Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. armartin@broadinstitute.org.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. armartin@broadinstitute.org.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. armartin@broadinstitute.org.

技术路线

数据/样本：All of Us研究项目245,388例全基因组序列与UK Biobank数据；分析：开发32个性状/疾病的多祖先多基因风险评分（PRS），评估祖先背景、方法学和遗传结构对AoU参与者PRS性能的影响。

最近 5 个完整年度引用趋势

完整作者

Jingyuan Liang、Yeunhyang Choi、Peng Shen、Susan Wells、Katrina Poppe、Zhangping Fu、Matire Harwood、Xiaofei Liu、Sue Crengle、Ting Wang、Corina Grey、Hongbo Lin、Suneela Mehta、Xun Tang、Rod Jackson、Pei Gao

作者机构

• Section of Epidemiology and Biostatistics, School of Population Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
• Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.
• Department of Chronic Diseases and Health Promotion, Yinzhou District Centre for Disease Control and Prevention, Ningbo, China.
• Department of General Practice and Primary Health Care, School of Population Health, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
• Department of Medicine, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
• Ngāi Tahu Māori Health Research Unit, Division of Health Sciences, University of Otago, Dunedin, New Zealand.
• Key Laboratory of Epidemiology of Major Diseases (Peking University), Ministry of Education, Beijing, China.
• Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China peigao@bjmu.edu.cn.
• Peking University Clinical Research Institute, Peking University, Beijing, China.

技术路线

电子健康记录队列数据（新西兰47,958人、中国46,558人）→按标准化方法分别推导两国性别特异性5年心血管风险预测方程并比较预测因子风险比→将新西兰方程应用于中国队列，评估标准化再校准前后的性能，再更新风险比存在显著差异的预测因子（如年龄系数）并验证校准改善

最近 5 个完整年度引用趋势

完整作者

Zihan Zhao、Fengtao Zhou、Ronggang Li、Bing Chu、Xinke Zhang、Xueyi Zheng、Ke Zheng、Xiaobo Wen、Jiabo Ma、Yihui Wang、Jiewei Chen、Chengyou Zheng、Jiangyu Zhang、Yongqin Wen、Jiajia Meng、Ziqi Zeng、Xiaoqing Li、Jing Li、Dan Xie、Yaping Ye、Yu Wang、Hao Chen、Muyan Cai

作者机构

• Department of Pathology, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, China.
• Department of Gastric Surgery, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, China.
• Department of Computer Science and Engineering, Hong Kong University of Science and Technology, Hong Kong, China.
• Department of Pathology, Jiangmen Central Hospital, Jiangmen, China.
• Department of Pathology, Zhongshan People's Hospital, Zhongshan, China.
• Department of Pathology, Affiliated Cancer Hospital & Institute of Guangzhou Medical University, Guangzhou, China.
• Department of Pathology, The Tenth Affiliated Hospital, Southern Medical University, Dongguan People's Hospital, Dongguan, China.
• Department of Pathology, Huizhou Central People's Hospital, Huizhou, China.
• Department of Pathology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
• Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
• Department of Pathology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
• Department of Computer Science and Engineering, Hong Kong University of Science and Technology, Hong Kong, China. jhc@ust.hk.
• Department of Chemical and Biological Engineering, Hong Kong University of Science and Technology, Hong Kong, China. jhc@ust.hk.
• Division of Life Science, Hong Kong University of Science and Technology, Hong Kong, China. jhc@ust.hk.
• HKUST Shenzhen-Hong Kong Collaborative Innovation Research Institute, Futian, Shenzhen, China. jhc@ust.hk.
• State Key Laboratory of Nervous System Disorders, The Hong Kong University of Science and Technology, Hong Kong, China. jhc@ust.hk.
• SIAT-HKUST Joint Laboratory for Brain Science, The Hong Kong University of Science and Technology, Hong Kong, China. jhc@ust.hk.
• Department of Pathology, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, China. caimy@sysucc.org.cn.

技术路线

数据/样本：来自10个医疗中心的逾10万张冰冻切片构建CRISP基础模型；分析：在近100项回顾性诊断任务、逾1.5万张术中切片上评估，并观察跨6家机构、14种肿瘤类型、24个解剖部位的泛化性；验证：3000余例患者的前瞻性队列验证，评估真实条件下诊断准确性、对手术决策的影响及人机协作效果

最近 5 个完整年度引用趋势

完整作者

Vincent J Straub、Stefania Benonisdottir、Giovanni Scotti Bentivoglio、Neil Wary、Robert Campbell、Augustine Kong、Melinda C Mills

作者机构

• Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK. vincent.straub@ndph.ox.ac.uk.
• Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK.
• Institute of Physical Sciences, University of Iceland, Reykjavík, Iceland.
• Department of Economics, Econometrics and Finance, University of Groningen, Groningen, the Netherlands.
• Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK. melinda.mills@demography.ox.ac.uk.
• Department of Economics, Econometrics and Finance, University of Groningen, Groningen, the Netherlands. melinda.mills@demography.ox.ac.uk.
• Department of Genetics, University Medical Centre Groningen, Groningen, the Netherlands. melinda.mills@demography.ox.ac.uk.

技术路线

数据/样本：Our Future Health前瞻性研究中>190万参与者的基线表型数据（自报健康行为、地理位置、诊断与用药、住院/门诊记录、癌症登记及死因） → 分析：描述性统计并与英国国家估计及UK Biobank队列比较疾病模式、计算相关性

最近 5 个完整年度引用趋势

完整作者

Barış Kayaalp、Kerem Çil、Clément Conil、Aurélie Cobat、Meltem Ece Kars、Yuval Itan、Jean-Laurent Casanova、Tayfun Özçelik

作者机构

• Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
• Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
• Imagine Institute, University of Paris, Paris, France.
• St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
• Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
• Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
• Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
• The Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
• Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris, France.
• HHMI, Rockefeller University, New York, NY, USA.
• Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey. tozcelik@bilkent.edu.tr.

技术路线

功能数据训练集 → FuncVEP模型构建

最近 5 个完整年度引用趋势

完整作者

Guillaume Holley、Hannes P Eggertsson、Snaedis Kristmundsdottir、Doruk Beyter、Astros Th Skuladottir、Kristjan H S Moore、Pall I Olason、Arnaldur Gylfason、Olafur T Magnusson、Asmundur Oddsson、Hreinn Stefansson、Agnar Helgason、Gisli Masson、Patrick Sulem、Daniel F Gudbjartsson、Kari Stefansson、Bjarni V Halldorsson

作者机构

• deCODE genetics/Amgen, Reykjavik, Iceland. gholley@amgen.com.
• deCODE genetics/Amgen, Reykjavik, Iceland. heggerts@amgen.com.
• deCODE genetics/Amgen, Reykjavik, Iceland.
• Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
• Department of Anthropology, University of Iceland, Reykjavik, Iceland.
• School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
• School of Technology, Reykjavik University, Reykjavik, Iceland.

技术路线

698个冰岛单倍型（亲代-子代三人组数据） → Emblask短读长读混合单倍型分型组装

最近 5 个完整年度引用趋势

完整作者

Timothy S Anderson、Linnea M Wilson、Jeremy B Sussman

作者机构

• Division of General Internal Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
• Center for Healthcare Evaluation, Research, and Promotion, VA Pittsburgh Healthcare System, Pittsburgh, Pennsylvania.
• Division of General Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
• University of Colorado School of Medicine, Aurora.
• Division of General Internal Medicine, University of Michigan, Ann Arbor.
• Center for Clinical Management Research, VA Ann Arbor Healthcare System, Ann Arbor, Michigan.

技术路线

数据/样本：2017-2023年NHANES全国代表性横断面样本，纳入30-79岁无已知ASCVD的非妊娠成人4366名（加权代表1.545亿美国成人）；分析：比较2026与2018血脂指南下的他汀一级预防资格变化，按加权比例估算符合资格及新符合资格人群规模，并描述其年龄与10年ASCVD风险特征；验证：原文未报告独立验证。

最近 5 个完整年度引用趋势