洞察前沿，连接科研新知

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

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

Irene Faravelli、Noelia Antón-Bolaños、Anqi Wei、Tyler Faits、Abhishek Sampath Kumar、Sophia Andreadis、Rahel Kastli、Marta Montero Crespo、Mara Steiger、Daniel Leible、Elizabeth Zhang、Bobae An、Yaron Meirovitch、Sayara Silwal、Sung Min Yang、Alexander Kovacsovics、Xian Adiconis、Helene Kretzmer、Joshua Z Levin、Edward S Boyden、Jeff Lichtman、Aviv Regev、Alexander Meissner、Paola Arlotta

作者机构

• Department of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, USA.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department for Clinical Sciences and Community Health (DISCCO), University of Milan, Milan, Italy.
• Department of Translational Neuroscience, University Medical Center Utrecht (UMCU), Brain Center, Utrecht University, Utrecht, The Netherlands.
• Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.
• Digital Health Cluster, Hasso Plattner Institute for Digital Engineering, Digital Engineering Faculty, University of Potdsdam, Potsdam, Germany.
• McGovern Institute, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA.
• Department of Molecular and Cellular Biology and The Center for Brain Science, Harvard University, Cambridge, MA, USA.
• Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Genentech, San Francisco, CA, USA.
• Broad Institute of MIT and Harvard, Boston, MA, USA.
• Department of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, USA. paola_arlotta@harvard.edu.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. paola_arlotta@harvard.edu.

技术路线

人脑类器官长期培养样本 → 转录组成熟模块分析

最近 5 个完整年度引用趋势

完整作者

Zhiguang Wu、Zhengyang Sun、Shuangying Jiang、Yaqi Wang、Tanxi Bai、Cheng Zeng、Zelin Cai、Chenghao Su、Xiandi Zhang、Yunan Chen、Yue Shen、Chenyou Zhu、Ye Xiang、Fang Fang、Ninuo Xia、Dongsheng Liu、Junbiao Dai、Bryan Wei

作者机构

• School of Life Sciences, Tsinghua University, Beijing, China.
• Center for Synthetic and Systems Biology, Tsinghua University, Beijing, China.
• Shenzhen Key Laboratory of Synthetic Genomics, Guangdong Provincial Key Laboratory of Synthetic Genomics, State Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.
• Laboratory of Genome and Multi-omics Technologies, BGI Research, Shenzhen, China.
• BGI Research, Changzhou, China.
• Engineering Research Center of Advanced Rare Earth Materials (Ministry of Education), Department of Chemistry, Tsinghua University, Beijing, China.
• Beijing Advanced Innovation Center for Structural Biology, Beijing Frontier Research Center for Biological Structure, Center for Infectious Disease Research, Department of Basic Medical Sciences, School of Medicine, Tsinghua University, Beijing, China.
• Reproductive and Genetic Center, The First Affiliated Hospital of USTC, Center for Advanced Interdisciplinary Science and Biomedicine of IHM, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
• CodeR Therapeutics, Ltd, Hefei, China. nxia007@gmail.com.
• Engineering Research Center of Advanced Rare Earth Materials (Ministry of Education), Department of Chemistry, Tsinghua University, Beijing, China. dongsheng.liu@polyu.edu.hk.
• Department of Chemistry, The Hong Kong Polytechnic University, Hong Kong, China. dongsheng.liu@polyu.edu.hk.
• Research Institute for Future Food, The Hong Kong Polytechnic University, Hong Kong, China. dongsheng.liu@polyu.edu.hk.
• PolyU Shenzhen Research Institute, The Hong Kong Polytechnic University, Shenzhen, China. dongsheng.liu@polyu.edu.hk.
• Shenzhen Key Laboratory of Synthetic Genomics, Guangdong Provincial Key Laboratory of Synthetic Genomics, State Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China. daijunbiao@caas.cn.
• Shenzhen Branch, Guangdong Laboratory for Lingnan Modern Agriculture, Key Laboratory of Synthetic Biology, Ministry of Agriculture and Rural Affairs, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen, China. daijunbiao@caas.cn.
• School of Life Sciences, Tsinghua University, Beijing, China. bw@tsinghua.edu.cn.
• Center for Synthetic and Systems Biology, Tsinghua University, Beijing, China. bw@tsinghua.edu.cn.
• Center for Life Sciences and Artificial Intelligence, School of Life Sciences, Tsinghua University, Beijing, China. bw@tsinghua.edu.cn.

技术路线

微芯片寡核苷酸合成 → 重叠DNA片段体外正交自组装

最近 5 个完整年度引用趋势

完整作者

Kisung Nam、Minjung Kho、Wei Zhou、Bhramar Mukherjee、Seunggeun Lee

作者机构

• Graduate School of Data Science, Seoul National University, Seoul, South Korea.
• Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department of Biostatistics, Yale School of Public Health, Yale University, New Haven, CT, USA.
• Graduate School of Data Science, Seoul National University, Seoul, South Korea. lee7801@snu.ac.kr.

技术路线

数据/样本：UK Biobank全外显子组测序数据（100个性状）及模拟数据 → 分析：方差组分模型估计基因/区域水平遗传力，经验贝叶斯估计变异水平效应量，Firth偏倚校正处理病例对照不平衡

最近 5 个完整年度引用趋势

完整作者

Martin Jinye Zhang、Arun Durvasula、Colby Chiang、Evan M Koch、Benjamin J Strober、Huwenbo Shi、Alison R Barton、Samuel S Kim、Omer Weissbrod、Po-Ru Loh、Steven Gazal、Shamil Sunyaev、Alkes L Price

作者机构

• Ray and Stephanie Lane Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA, USA. martinzh@andrew.cmu.edu.
• Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. martinzh@andrew.cmu.edu.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. martinzh@andrew.cmu.edu.
• Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Arun.Durvasula@med.usc.edu.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. Arun.Durvasula@med.usc.edu.
• Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Arun.Durvasula@med.usc.edu.
• Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. Arun.Durvasula@med.usc.edu.
• Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. Colby.Chiang@childrens.harvard.edu.
• Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
• Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
• Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.
• Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
• Department of Human Evolutionary Biology, Harvard University, Cambridge, MA, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
• Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
• Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
• Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ssunyaev@hms.harvard.edu.
• Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ssunyaev@hms.harvard.edu.
• Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. ssunyaev@hms.harvard.edu.
• Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. aprice@hsph.harvard.edu.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. aprice@hsph.harvard.edu.
• Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. aprice@hsph.harvard.edu.

技术路线

UK Biobank 70种疾病/性状的基因型与表型数据（平均N=305,646） → LDSPEC估计近端SNP对因果效应量相关性

最近 5 个完整年度引用趋势

完整作者

Xiaolei Yu、Vincent Mukwaya、Minxing Yue、Shuo Yang、Qian Li、Weili Zhao、Chunhai Fan、Lin Wang、Yingxi Zhao、Hongkai Yang、Jiacan Su、Li Wang、Hongjing Dou

作者机构

• State Key Laboratory of Metal Matrix Composites, School of Materials Science and Engineering, and National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China.
• State Key Laboratory of Metal Matrix Composites, School of Materials Science and Engineering, and National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China. mukvince@sjtu.edu.cn.
• Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
• State Key Laboratory of Synergistic Chem-Bio Synthesis, School of Chemistry and Chemical Engineering, New Cornerstone Science Laboratory, Frontiers Science Center for Transformative Molecules, Zhang Jiang Institute for Advanced Study and National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China. liqian2018@sjtu.edu.cn.
• State Key Laboratory of Synergistic Chem-Bio Synthesis, School of Chemistry and Chemical Engineering, New Cornerstone Science Laboratory, Frontiers Science Center for Transformative Molecules, Zhang Jiang Institute for Advanced Study and National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China.
• Institute of Molecular Medicine, Shanghai Key Laboratory for Nucleic Acids Chemistry and Nanomedicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
• Hebei Senlang Biotechnology, Shijiazhuang, China.
• Department of Orthopedics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
• Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. dr_wangli@126.com.
• State Key Laboratory of Metal Matrix Composites, School of Materials Science and Engineering, and National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China. hjdou@sjtu.edu.cn.

技术路线

数据/样本：基于仿生膜-内质网架构构建的kpiCells人工细胞平台，作为可调机械、化学和形貌输入的仿生体系 → 分析：使kpiCells参与生理性细胞间相互作用，复现亚细胞特征；在T细胞系统中整合 interrogate 传入机械感知通路与传出力施加通路

最近 5 个完整年度引用趋势

完整作者

Qinhao Cao、Jared E Toettcher

作者机构

• Department of Molecular Biology, Princeton University, Princeton, NJ, USA.
• Department of Molecular Biology, Princeton University, Princeton, NJ, USA. toettcher@princeton.edu.
• Omenn-Darling Bioengineering Institute, Princeton University, Princeton, NJ, USA. toettcher@princeton.edu.

技术路线

已表征的变构Gal4转录因子与经典激酶FRET生物传感器架构（作为设计起点） → 构建并优化磷酸化控制开关（phospho-switch）各特征，获得ERK控制的转录因子

最近 5 个完整年度引用趋势

完整作者

Taotao Tan、Alejandra Vergara-Lope、José Jaime Martínez-Magaña、Nirav N Shah、Yi-Sian Lin、Kai Yuan、Jaime Berumen、Jesus Alegre-Díaz、Pablo Kuri-Morales、Roberto Tapia-Conyer、Joel Gelenter、Janitza L Montalvo-Ortiz、Wei Zhou、Jason M Torres、Elizabeth G Atkinson

作者机构

• Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
• Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.
• Clinical Trial Service Unit and Epidemiological Studies Unit, Oxford Population Health, Big Data Institute, University of Oxford, Oxford, UK.
• Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
• VA Connecticut Healthcare System, West Haven, CT, USA.
• Clinical Neurosciences Division, US Department of Veterans Affairs National Center for Posttraumatic Stress Disorder, West Haven, CT, USA.
• Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
• Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department of Medicine, Harvard Medical School, Boston, MA, USA.
• Experimental Research Unit, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
• Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
• Instituto Tecnológico y de Estudios Superiores de Monterrey, Monterrey, Mexico.
• Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
• Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
• Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Elizabeth.Atkinson@bcm.edu.
• Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Elizabeth.Atkinson@bcm.edu.

技术路线

混合作战样本（UK Biobank、Yale-Penn队列、墨西哥城前瞻性研究） → Tractor-Mix关联分析（考虑亲缘关系与局部祖先）

最近 5 个完整年度引用趋势

完整作者

Yaokun Liang、Xianghui Qi、Song Gao、Yunjiao Wang、Guoshi Kan、Leonid N Valentovich、Jingjing Guo、Yingfeng An

作者机构

• College of Biosciences and Biotechnology, Shenyang Agricultural University, Shenyang 110866, Liaoning, China.
• Shenyang Key Laboratory of Microbial Resource Mining and Molecular Breeding, Liaoning 110000, Shenyang, China.
• School of Life Sciences, Guangzhou University, Guangzhou, Guangdong 510006, China.
• Institute of Microbiology, National Academy of Sciences of Belarus, Minsk 220000, Belarus.
• Engineering Research Centre of Applied Technology on Machine Translation and Artificial Intelligence, Macao Polytechnic University, Macau 999078, China.

技术路线

以荧光蛋白为报告基因→基于光敏CRISPR/dCas9系统，整合翻译与翻译后水平的调控模式，对dCas9蛋白实施多层级精准调控，分析目标基因转录水平变化（mCherry荧光强度较无调控提升最高2.58倍）

最近 5 个完整年度引用趋势