洞察前沿，连接科研新知

完整作者

David M van den Berg、Daniel S Malawsky、Wei Huang、Petr Danecek、Klaudia Walter、Georgios Kalantzis、Isaac Wade、Duncan Palmer、Ewan Birney、Karin J H Verweij、Dirk J A Smit、Sarah J Lindsay、Matthew E Hurles、Abdel Abdellaoui、Hilary C Martin

作者机构

• Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
• Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
• Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, UK.
• Department of Statistics, University of Oxford, Oxford, UK.
• The Pioneer Centre for SMARTbiomed, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
• European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.
• Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. meh@sanger.ac.uk.
• Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. a.abdellaoui@amsterdamumc.nl.
• Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. hcm@sanger.ac.uk.

技术路线

数据/样本：整合UK Biobank多项流体智力(FI)测量，对未测量个体进行FI插补，样本量由约27万扩至超45.5万→分析：将实测与插补FI合并用于常见变异关联分析(独立显著SNP由390增至550)及罕见变异分析(识别26个FDR<1%显著基因)→验证：对插补表型进行广泛验证，显示其遗传上类似实测FI但可能残留部分非认知信号；罕见变异结果在外部队列中总体重复。

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

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