洞察前沿，连接科研新知

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

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

Meghana Kamineni、Vineet Raghu、Zhanqing Hua、Haodong Tian、Buu Truong、Ahmed Alaa、Art Schuermans、Sam Friedman、Christopher Reeder、Romit Bhattacharya、Peter Libby、Patrick T Ellinor、Mahnaz Maddah、Anthony Philippakis、Whitney Hornsby、Zhi Yu、Pradeep Natarajan

作者机构

• Harvard Medical School, Boston, MA 02115, USA.
• Cardiovascular Imaging Research Center, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
• Artificial Intelligence in Medicine Program, Mass General Brigham, Boston, MA 02114, USA.
• Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
• Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
• Heart and Vascular Institute, Mass General Brigham, Boston, MA 02114, USA.
• Computational Precision Health Program, University of California, Berkeley, Berkeley, CA 94720, USA.
• Computational Precision Health Program, University of California, San Francisco, San Francisco, CA 94143, USA.
• Faculty of Medicine, KU Leuven, 3000 Leuven, Belgium.
• Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
• Layer Health, Boston, MA 02111, USA.
• Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.
• Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
• Google Ventures, Cambridge, MA 02142, USA.
• Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
• Personalized Medicine, Mass General Brigham, Boston, MA 02114, USA.
• Amgen Inc., Thousand Oaks, CA 91320, USA.

技术路线

数据/样本：UK Biobank 42,059例与MGBB 2,745例腹部MRI；分析：深度学习提取107个脾脏影像组学特征→与CAD关联分析→对CAD相关特征行全基因组关联分析；验证：研究MRI内部一致，外部临床验证发现影像协议差异和临床异质性带来转化挑战

最近 5 个完整年度引用趋势

完整作者

So-Hee Son、Soo Young Moon、Nan-Yeong An、Ju Young Lee

作者机构

• Graduate School of Engineering Biology, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea.
• Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea.
• KI for BioInnovation, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea.

技术路线

设计模块化杂合启动子（整合细菌-10/-35基序、Shine-Dalgarno序列与酵母最小TATA盒、Kozak序列） → 在大肠杆菌和酿酒酵母中表征弱、中、强表达及跨物种相对一致性

最近 5 个完整年度引用趋势

完整作者

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完整作者

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最近 5 个完整年度引用趋势

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完整作者

Shenzhi Chen、Vincent Loubiere、Ethan W Hollingsworth、Ken Murakami、Nikolaus Mandlburger、Sandra H Jacinto、Atrin Dizehchi、Jacob Schreiber、Evgeny Z Kvon、Alexander Stark

作者机构

• Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria.
• Vienna BioCenter PhD Program, Doctoral School of the University of Vienna and Medical University of Vienna, Vienna, Austria.
• Department of Developmental and Cell Biology, University of California Irvine, Irvine, CA, USA.
• Medical Scientist Training Program, University of California Irvine, Irvine, CA, USA.
• Department of Genomics and Computational Biology, UMass Chan Medical School, Worcester, MA, USA.
• Department of Systems Biology, University of California Irvine, Irvine, CA, USA.
• Research Institute of Molecular Pathology (IMP), Vienna BioCenter (VBC), Vienna, Austria. stark@starklab.org.
• Medical University of Vienna, Vienna BioCenter (VBC), Vienna, Austria. stark@starklab.org.

技术路线

数据/样本：整理染色质可及性数据及已验证的人和小鼠增强子；分析：训练紧凑卷积神经网络，并通过迁移学习微调；设计15个针对小鼠胚胎心脏、肢体和中枢神经系统的合成增强子；验证：在目标组织中检测到所有设计增强子均具有活性。

最近 5 个完整年度引用趋势