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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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Quantum Simulation for High-Energy Physics

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PRX Quantum 2023年第2期4卷 027001-027001页

作者： Christian W. Bauer Zohreh Davoudi A. Baha Balantekin Tanmoy Bhattacharya Marcela Carena Wibe A. de Jong Patrick Draper Aida El-Khadra Nate Gemelke Masanori Hanada Dmitri Kharzeev Henry Lamm Ying-Ying Li Junyu Liu Mikhail Lukin Yannick Meurice Christopher Monroe Benjamin Nachman Guido Pagano John Preskill Enrico Rinaldi Alessandro Roggero David I. Santiago Martin J. Savage Irfan Siddiqi George Siopsis David Van Zanten Nathan Wiebe Yukari Yamauchi Kübra Yeter-Aydeniz Silvia Zorzetti Physics Division Lawrence Berkeley National Laboratory Berkeley California 94720 USA Department of Physics Maryland Center for Fundamental Physics and the NSF Institute for Robust Quantum Simulation University of Maryland College Park Maryland 20742 USA Department of Physics University of Wisconsin Madison Wisconsin 53706 USA T-2 Los Alamos National Laboratory Los Alamos New Mexico 87545 USA Fermi National Accelerator Laboratory Batavia Illinois 60510 USA Enrico Fermi Institute University of Chicago Chicago Illinois 60637 USA Kavli Institute for Cosmological Physics University of Chicago Chicago Illinois 60637 USA Department of Physics University of Chicago Chicago Illinois 60637 USA Department of Physics and Illinois Center for the Advanced Study of the Universe and Illinois Quantum Information Science and Technology Center University of Illinois Urbana Illinois 61801 USA QuEra Computing Inc Boston Massachusetts 02135 USA Department of Mathematics University of Surrey Guildford Surrey GU2 7XH United Kingdom Center for Nuclear Theory Department of Physics and Astronomy Stony Brook University New York 11794-3800 USA Department of Physics Brookhaven National Laboratory Upton New York 11973 USA Peng Huanwu Center for Fundamental Theory Hefei Anhui 230026 China Interdisciplinary Center for Theoretical Study University of Science and Technology of China Hefei Anhui 230026 China Pritzker School of Molecular Engineering Chicago Quantum Exchange and Kadanoff Center for Theoretical Physics University of Chicago Illinois 60637 USA qBraid Co. Harper Court 5235 Chicago Illinois 60615 USA Department of Physics Harvard University Cambridge Massachusetts 02138 USA Department of Physics and Astronomy University of Iowa Iowa City Iowa 52242 USA Duke Quantum Center Duke University Durham North Carolina 27701 USA Department of Electrical and Computer Engineering Duke University Durham North Carolina 27708 USA Department of Physics Duke University

It is for the first time that quantum simulation for high-energy physics (HEP) is studied in the U.S. decadal particle-physics community planning, and in fact until recently, this was not considered a mainstream topic in the community. This fact speaks of a remarkable rate of growth of this subfield over the past few years, stimulated by the impressive advancements in quantum information sciences (QIS) and associated technologies over the past decade, and the significant investment in this area by the government and private sectors in the U.S. and other countries. High-energy physicists have quickly identified problems of importance to our understanding of nature at the most fundamental level, from tiniest distances to cosmological extents, that are intractable with classical computers but may benefit from quantum advantage. They have initiated, and continue to carry out, a vigorous program in theory, algorithm, and hardware co-design for simulations of relevance to the HEP mission. This Roadmap is an attempt to bring this exciting and yet challenging area of research to the spotlight, and to elaborate on what the promises, requirements, challenges, and potential solutions are over the next decade and beyond.

关键词： Quantum simulation

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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Postdoc Perspectives on Leadership and Matters of Equity and Inclusion in Polar science

Perspectives of Earth and Space Scientists

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Perspectives of Earth and Space Scientists 2024年第1期5卷

作者： Sophie Goliber Jason Coenen Heather Fair Angela R. Szesciorka Kirstin Schulz David J. Harning Benjamin Fernando Stanislav Saas Ksenofontov Astrid Pacini Marisol Juarez Rivera Radiance Calmer John A. Conroy Eva Lisa Doting Marie Bergelin Devon Dunmire Maria Luisa Sánchez Montes Alexandra M. Ravelo Anne Sledd Taylor R. Stinchcomb Emily J. Tibbett Mariama C. Dryák-Vallies The State University of New York at Buffalo Buffalo NY USA Department of Earth and Atmospheric Sciences University of Nebraska-Lincoln Lincoln NE USA Department of Plant and Microbial Biology University of Minnesota Saint Paul MN USA Marine Mammal Institute Hatfield Marine Science Center Oregon State University Newport OR USA Oden Institute for Computational Engineering and Sciences The University of Texas at Austin Austin TX USA Institute of Arctic and Alpine Research University of Colorado Boulder Boulder CO USA Johns Hopkins University Baltimore MD USA ARCTICenter University of Northern Iowa Cedar Falls IA USA Applied Physics Laboratory Polar Science Center University of Washington Seattle WA USA University of New Mexico Albuquerque NM USA Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder CO USA Ocean Sciences Department University of California Santa Cruz Santa Cruz CA USA Department of Earth and Environmental Science University of Pennsylvania Philadelphia PA USA Berkeley Geochronology Center Berkeley CA USA Department of Earth and Environmental Sciences KU Leuven Heverlee Belgium International Arctic Research Center University of Alaska Fairbanks Fairbanks AK USA National Oceanic and Atmospheric Administration Physical Sciences Laboratory Boulder CO USA Wildlife Conservation Society Arctic-Beringia Program Fairbanks AK USA University of Massachusetts Amherst Amherst MA USA Polar Science Early Career Community Office University of Colorado Boulder Boulder CO USA

In 2023, the first Polar Postdoc Leadership Workshop convened to discuss present and future polar science issues and to develop leadership skills. The workshop discussions fostered a collective commitment to inclusive leadership within the polar science community among all participants. Here, we outline challenges encountered by underrepresented groups in polar sciences, while also noting that progress has been made to improve inclusivity in the field. Further, we highlight the inclusive leadership principles identified by workshop participants to bring to the polar community as we transition into leadership roles. Finally, insights and practical knowledge we gained from the workshop are shared, aiming to inform the community of our commitment to inclusive leadership and encourage the polar community to join us in pursuing action toward our shared vision for a more welcoming polar science future. As a small community of postdoctoral researchers, we outline the leadership skills envisioned for an inclusive future in polar sciences Our vision is to increase the success of underrepresented individuals as leaders by creating a welcoming and supportive career environment Group norms and leadership skills focused on emotional intelligence are critical to equity and inclusion in polar sciences

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Harmonized-Multinational qEEG norms (HarMNqEEG)

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NEUROIMAGE 2022年 256卷 119190-119190页

作者： Li, Min Wang, Ying Lopez-Naranjo, Carlos Hu, Shiang Reyes, Ronaldo Cesar Garcia Paz-Linares, Deirel Areces-Gonzalez, Ariosky Hamid, Aini Ismafairus Abd Evans, Alan C. Savostyanov, Alexander N. Calzada-Reyes, Ana Villringer, Arno Tobon-Quintero, Carlos A. Garcia-Agustin, Daysi Yao, Dezhong Dong, Li Aubert-Vazquez, Eduardo Reza, Faruque Razzaq, Fuleah Abdul Omar, Hazim Abdullah, Jafri Malin Galler, Janina R. Ochoa-Gomez, John F. Prichep, Leslie S. Galan-Garcia, Lidice Morales-Chacon, Lilia Valdes-Sosa, Mitchell J. Trondle, Marius Zulkifly, Mohd Faizal Mohd Rahman, Muhammad Riddha Bin Abdul Milakhina, Natalya S. Langer, Nicolas Rudych, Pavel Koenig, Thomas Virues-Alba, Trinidad A. Lei, Xu Bringas-Vega, Maria L. Bosch-Bayard, Jorge F. Valdes-Sosa, Pedro Antonio [a]The Clinical Hospital of Chengdu Brain Science Institute MOE Key Lab for Neuroinformation School of Life Science and Technology University of Electronic Science and Technology of China Chengdu China [b]Cuban Center for Neurocience La Habana Cuba [c]McGill Centre for Integrative Neuroscience Ludmer Centre for Neuroinformatics and Mental Health Montreal Neurological Institute Canada [d]Department of Neurosciences School of Medical Sciences Universiti Sains Malaysia Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [e]Brain and Behaviour Cluster School of Medical Sciences Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [f]Hospital Universiti Sains Malaysia Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [g]Humanitarian Institute Novosibirsk State University Novosibirsk 630090 Russia [h]Laboratory of Psychophysiology of Individual Differences Federal State Budgetary Scientific Institution Scientific Research Institute of Neurosciences and Medicine Novosibirsk 630117 Russia [i]Laboratory of Psychological Genetics at the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences Novosibirsk 630090 Russia [j]University of Pinar del Río “Hermanos Saiz Montes de Oca” Pinar del Río Cuba [k]Department of Neurology Max Planck Institute for Human Cognitive and Brain Sciences Leipzig Germany [l]Department of Cognitive Neurology University Hospital Leipzig Leipzig Germany [m]Center for Stroke Research Charité-Universitätsmedizin Berlin Berlin Germany [n]Grupo Neuropsicología y Conducta - GRUNECO Faculty of Medicine Universidad de Antioquia Colombia [o]Research Department Institución Prestadora de Servicios de Salud IPS Universitaria Colombia [p]The Cuban center aging longevity and health Havana Cuba [q]Research Unit of NeuroInformation Chinese Academy of Medical Sciences Chengdu 2019RU035 China [r]School of Electrical Engineering Zhengzhou University Zhengzhou 4500

This paper extends frequency domain quantitative electroencephalography (qEEG) methods pursuing higher sensitivity to detect Brain Developmental Disorders. Prior qEEG work lacked integration of cross-spectral information omitting important functional connectivity descriptors. Lack of geographical diversity precluded accounting for site-specific variance, increasing qEEG nuisance variance. We ameliorate these weaknesses. (i) Create lifespan Riemannian multinational qEEG norms for cross-spectral tensors. These norms result from the HarMNqEEG project fostered by the Global Brain Consortium. We calculate the norms with data from 9 countries, 12 devices, and 14 studies, including 1564 subjects. Instead of raw data, only anonymized metadata and EEG cross spectral tensors were shared. After visual and automatic quality control, developmental equations for the mean and standard deviation of qEEG traditional and Riemannian DPs were calculated using additive mixed-effects models. We demonstrate qEEG "batch effects " and provide methods to calculate harmonized z-scores. (ii) We also show that harmonized Riemannian norms produce z-scores with increased diagnostic accuracy predicting brain dysfunction produced by malnutrition in the first year of life and detecting COVID induced brain dysfunction. (iii) We offer open code and data to calculate different individual z-scores from the HarMNqEEG dataset. These results contribute to developing bias-free, low-cost neuroimaging technologies applicable in various health settings.

关键词： Quantitative EEG EEG cross-spectrum Riemannian geometry Batch effects Z-score Harmonization Malnutrition Covid induced brain dysfunction Developmental Brain Chart

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Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Dec, 10.1038/s41467-019-13824-9, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-1页

作者： Sieverling, Lina Hong, Chen Koser, Sandra D. Ginsbach, Philip Kleinheinz, Kortine Hutter, Barbara Braun, Delia M. Cortes-Ciriano, Isidro Xi, Ruibin Kabbe, Rolf Park, Peter J. Eils, Roland Schlesner, Matthias Brors, Benedikt Rippe, Karsten Jones, David T. W. Feuerbach, Lars Division of Applied Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Faculty of Biosciences Heidelberg University 69120 Heidelberg Germany Division of Applied Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Department for Bioinformatics and Functional Genomics Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant 69120 Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Institute of Pharmacy and Molecular Biotechnology and BioQuant Heidelberg University Heidelberg Germany German Cancer Consortium (DKTK) Heidelberg Germany National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany Heidelberg Center for Personalized Oncology (DKFZ-HIPO) German Cancer Research Center (DKFZ) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Division of Chromatin Networks German Cancer Research Center (DKFZ) and BioQuant 69120 Heidelberg Germany Department of Biomedical Informatics Harvard Medical School Boston Massachusetts 02115 USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge CB2 1EW UK Ludwig Center at Harvard Medical School Boston Massachusetts 02115 USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge UK Ludwig Center at Harvard Medical School Boston MA USA School of Mathematical Sciences and Center for Statistical Science Peking University Beijing 100871 China Heidelberg University Heidelberg Germany New BIH Digital Health Center Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin Berlin Germany Bioi

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Publisher Correction: Integrating genomics and metabolomics for scalable non-ribosomal peptide discovery

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Nature communications 2021年第1期12卷 4318页

作者： Bahar Behsaz Edna Bode Alexey Gurevich Yan-Ni Shi Florian Grundmann Deepa Acharya Andrés Mauricio Caraballo-Rodríguez Amina Bouslimani Morgan Panitchpakdi Annabell Linck Changhui Guan Julia Oh Pieter C Dorrestein Helge B Bode Pavel A Pevzner Hosein Mohimani Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Center for Microbiome Innovation University of California at San Diego La Jolla CA USA. Computational Biology Department School of Computer Science Carnegie Mellon University Pittsburgh PA USA. Molecular Biotechnology Department of Biosciences Goethe University Frankfurt Frankfurt am Main Germany. Center for Algorithmic Biotechnology Institute of Translational Biomedicine St. Petersburg State University St Petersburg Russia. Tiny Earth Chemistry Hub University of Wisconsin-Madison Madison WI USA. Collaborative Mass Spectrometry Innovation Center Skaggs School of Pharmacy and Pharmaceutical Sciences University of California San Diego La Jolla CA USA. The Jackson Laboratory of Medical Genomics Farmington CT USA. Molecular Biotechnology Department of Biosciences Goethe University Frankfurt Frankfurt am Main Germany. helge.bode@mpi-marburg.mpg.de. Buchmann Institute for Molecular Life Sciences (BMLS) Goethe University Frankfurt & Senckenberg Research Institute Frankfurt am Main Germany. helge.bode@mpi-marburg.mpg.de. Max-Planck-Institute for Terrestrial Microbiology Department for Natural Products in Organismic Interactions Marburg Germany. helge.bode@mpi-marburg.mpg.de. Department of Computer Science and Engineering University of California San Diego La Jolla CA USA. ppevzner@ucsd.edu. Computational Biology Department School of Computer Science Carnegie Mellon University Pittsburgh PA USA. hoseinm@andrew.cmu.edu.

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Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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Nature communications 2020年第1期11卷 6232页

作者： Matthew H Bailey William U Meyerson Lewis Jonathan Dursi Liang-Bo Wang Guanlan Dong Wen-Wei Liang Amila Weerasinghe Shantao Li Yize Li Sean Kelso Gordon Saksena Kyle Ellrott Michael C Wendl David A Wheeler Gad Getz Jared T Simpson Mark B Gerstein Li Ding The McDonnell Genome Institute at Washington University St. Louis MO 63108 USA. Division of Oncology Department of Medicine Washington University School of Medicine St. Louis MO 63108 USA. Alvin J. Siteman Cancer Center Washington University School of Medicine St. Louis MO 63108 USA. Yale School of Medicine Yale University New Haven CT 06520 USA. Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA. Computational Biology Program Ontario Institute for Cancer Research Toronto ON M5G 0A3 Canada. The Hospital for Sick Children Toronto ON M5G 1X8 Canada. Broad Institute of MIT and Harvard Cambridge MA 02142 USA. Biomedical Engineering Oregon Health and Science University Portland OR 97239 USA. Department of Mathematics Washington University in St. Louis St. Louis MO 63130 USA. Department of Genetics Washington University School of Medicine St.Louis MO 63110 USA. Human Genome Sequencing Center Baylor College of Medicine Houston TX 77030 USA. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Harvard Medical School Boston MA 02115 USA. Center for Cancer Research Massachusetts General Hospital Boston MA 02114 USA. Department of Pathology Massachusetts General Hospital Boston MA 02114 USA. Department of Computer Science University of Toronto Toronto ON M5S Canada. Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. Department of Computer Science Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. Department of Molecular Biophysics and Biochemistry Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. The McDonnell Genome Institute at Washington University St. Louis MO 63108 USA. lding@wustl.edu. Division of Oncology Department of Medicine Washington University School of Medicine St. Louis MO 63108 USA. lding@wustl.edu. Alvin J. Siteman Cancer Center Wash

Correction to this paper has been published: https://***/10.1038/s41467-020-20128-w.

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Perspective on recent developments and challenges in regulatory and systems genomics

arXiv

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arXiv 2024年

作者： Zeiltinger, Julia Roy, Sushmita Ay, Ferhat Mathelier, Anthony Medina-Rivera, Alejandra Mahony, Shaun Sinha, Saurabh Ernst, Jason Stowers Institute for Medical Research Kansas CityMO64112 United States Department of Pathology & Laboratory Medicine The University of Kansas Medical Center Kansas CityKS66160 United States Department of Biostatistics and Medical Informatics University of Wisconsin-Madison Madison53715 United States Wisconsin Institute for Discovery University of Wisconsin-Madison Madison53715 United States Centers for Autoimmunity Inflammation and Cancer Immunotherapy La Jolla Institute for Immunology La Jolla CA United States Bioinformatics and Systems Biology Program University of California La Jolla San DiegoCA United States Department of Pediatrics University of California La Jolla San DiegoCA United States Nordic EMBL Partnership University of Oslo Oslo0318 Norway Department of Medical Genetics Institute of Clinical Medicine University of Oslo Oslo University Hospital Oslo Norway Department of Pharmacy University of Oslo Oslo Norway Laboratorio Internacional de Investigación sobre el Genoma Humano Universidad Nacional Autónoma de México Campus Juriquilla Blvd. Juriquilla 3001 Santiago de Querétaro76230 Mexico Center for Eukaryotic Gene Regulation Department of Biochemistry and Molecular Biology The Pennsylvania State University University ParkPA16802 United States Walter H. Coulter Department of Biomedical Engineering Georgia Institute of Technology AtlantaGA United States H. Milton Stewart School of Industrial and Systems Engineering Georgia Institute of Technology AtlantaGA United States Department of Biological Chemistry University of California Los Angeles Los AngelesCA90095 United States Computer Science Department University of California Los Angeles Los AngelesCA90095 United States Department of Computational Medicine University of California Los Angeles Los AngelesCA90095 United States Eli and Edythe Broad Center of Regenerative Medicine Stem Cell Research University of California Los Angeles Los AngelesCA90095 United States

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective, we discuss recent computational progress and challenges towards solving this fundamental problem. We describe how cis-regulatory elements are mapped and how their sequence rules can be learned and interpreted with sequence-to-function neural networks, with the goal of identifying genetic variants in human disease. We also discuss how studies of the 3D chromatin organization could help identifying long-range regulatory effects and how current methods for mapping gene regulatory networks could better describe biological processes. We point out current gaps in knowledge along with technical limitations and benchmarking challenges of computational methods. Finally, we discuss newly emerging technologies, such as spatial transcriptomics, and outline strategies for creating a more general model of the cis-regulatory code that is more broadly applicable across cell types and individuals. © 2024, CC BY-NC-SA.

关键词： Molecular docking

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Publisher Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors

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Nature genetics 2023年第1期55卷 166页

作者： Huipeng Li Elise T Courtois Debarka Sengupta Yuliana Tan Kok Hao Chen Jolene Jie Lin Goh Say Li Kong Clarinda Chua Lim Kiat Hon Wah Siew Tan Mark Wong Paul Jongjoon Choi Lawrence J K Wee Axel M Hillmer Iain Beehuat Tan Paul Robson Shyam Prabhakar Computational and Systems Biology Genome Institute of Singapore Singapore Singapore. Developmental Cellomics Laboratory Genome Institute of Singapore Singapore Singapore. Department of Computer Science and Engineering and Center for Computational Biology Indraprastha Institute of Information Technology Delhi India. Synthetic Biology Genome Institute of Singapore Singapore Singapore. Cancer Therapeutics and Stratified Oncology Genome Institute of Singapore Singapore Singapore. Department of Medical Oncology National Cancer Centre Singapore Singapore Singapore. Department of Pathology Singapore General Hospital Singapore Singapore. Department of Colorectal Surgery Singapore General Hospital Singapore Singapore. Data Analytics Department Institute for Infocomm Research Singapore Singapore. Cancer Therapeutics and Stratified Oncology Genome Institute of Singapore Singapore Singapore. iain.tan.b.h@singhealth.com.sg. Department of Medical Oncology National Cancer Centre Singapore Singapore Singapore. iain.tan.b.h@singhealth.com.sg. Program in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore Singapore. iain.tan.b.h@singhealth.com.sg. Developmental Cellomics Laboratory Genome Institute of Singapore Singapore Singapore. paul.robson@***. The Jackson Laboratory for Genomic Medicine Farmington Connecticut USA. paul.robson@***. Department of Genetics and Genome Sciences Institute for Systems Genomics University of Connecticut Farmington Connecticut USA. paul.robson@***. Department of Biological Sciences National University of Singapore Singapore Singapore. paul.robson@***. Computational and Systems Biology Genome Institute of Singapore Singapore Singapore. prabhakars@gis.a-star.edu.sg.

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