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arXiv 2022年

作者： Engel, Kristi Lewis, Tiffany Muzio, Marco Stein Venters, Tonia M. Ahlers, Markus Albert, Andrea Allen, Alice Solares, Hugo Alberto Ayala Anandagoda, Samalka Andersen, Thomas Antier, Sarah Alvarez-Castillo, David Bar, Olaf Beznosko, Dmitri Bibrzyck, Lukasz Brazier, Adam Brisbois, Chad Brose, Robert Brown, Duncan A. Bulla, Mattia Burgess, J. Michael Burns, Eric Chirenti, Cecilia Ciprini, Stefano Clay, Roger Coughlin, Michael W. Cummings, Austin D'Elia, Valerio Dai, Shi Dietrich, Tim Di Lalla, Niccolò Dingus, Brenda Durocher, Mora Eser, Johannes Filipović, Miroslav D. Fleischhack, Henrike Foucart, Francois Frontczak, Michal Fryer, Christopher L. Gamble, Ronald S. Gasparrini, Dario Giardino, Marco Goodman, Jordan Harding, J. Patrick Hare, Jeremy Holley-Bockelmann, Kelly Homola, Piotr Hughes, Kaeli A. Humensky, Brian Inoue, Yoshiyuki Jaffe, Tess Kargaltsev, Oleg Kierans, Carolyn Kneller, James P. Leto, Cristina Lucarelli, Fabrizio Martínez-Huerta, Humberto Maselli, Alessandro Meli, Athina Meyers, Patrick Mueller, Guido Nasipak, Zachary Negro, Michela Nied'zwiecki, Michal Noble, Scott C. Omodei, Nicola Oslowski, Stefan Perri, Matteo Piekarczyk, Marcin Pittori, Carlotta Polenta, Gianluca Prechelt, Remy L. Principe, Giacomo Racusin, Judith Rzecki, Krzysztof Sambruna, Rita M. Schlieder, Joshua E. Shoemaker, David Smale, Alan So'snicki, Tomasz Stein, Robert Stuglik, Slawomir Teuben, Peter Thorpe, James Ira Verbiest, Joris P. Verrecchia, Franceso Vitale, Salvatore Wadiasingh, Zorawar Wibig, Tadeusz Willox, Elijah Wilson-Hodge, Colleen A. Wood, Joshua Yang, Hui Zhang, Haocheng Physics Division Los Alamos National Laboratory Los AlamosNM87545 United States University of Maryland College Park College ParkMD20742 United States NASA Goddard Space Flight Center GreenbeltMD20771 United States Department of Physics Pennsylvania State University State College PA16801 United States Astroparticle Physics Laboratory NASA Goddard Space Flight Center GreenbeltMD20771 United States Niels Bohr International Academy Blegdamsvej 17 Copenhagen2100 Denmark Department of Physics Pennsylvania State University State CollegePA16801 United States Clemson University Department of Physics & Astronomy ClemsonSC29634 United States ARTEMIS UMR 7250 UCA CNRS OCA Boulevard de l'Observatoire CS 34229 Cedex 04 Nice06304 France Institute of Nuclear Physics PAN Cracow31-342 Poland Cornell Center for Astrophysics and Planetary Science Department of Astronomy Cornell University IthacaNY14853 United States Dublin Institute for Advanced Studies Astronomy & Astrophysics Section 31 Fitzwilliam Place Dublin 2D02 XF86 Ireland Department of Physics Syracuse University SyracuseNY13244 United States The Oskar Klein Centre Department of Astronomy Stockholm University AlbaNova StockholmSE-106 91 Sweden Max-Planck Institut fur Extraterrestrische Physik Giessenbachstrasse 1 Garching85740 Germany Louisiana State University Baton RougeLA70803 United States Center for Research and Exploration in Space Science and Technology NASA Goddard Space Flight Center GreenbeltMD20771 United States Center for Mathematics Computation and Cognition UFABC Santo Andr'e SP 09210-580 Brazil Space Science Data Center Italian Space Agency via del Politecnico snc Roma00133 Italy INFN-Sezione di Roma Tor Vergataî Roma00133 Italy University of Minnesota MinneapolisMN55455 United States 1Western Sydney University Locked Bag 1797 PenrithNSW2751 Australia Institute of Physics and Astronomy University of Potsdam Karl-Liebknecht-Str. 24/25 Potsdam14476 G

The last decade has brought about a profound transformation in multimessenger science. Ten years ago, facilities had been built or were under construction that would eventually discover the nature of objects in our universe could be detected through multiple messengers. Nonetheless, multimessenger science was hardly more than a dream. The rewards for our foresight were finally realized through IceCube's discovery of the diffuse astrophysical neutrino flux, the first observation of gravitational waves by LIGO, and the first joint detections in gravitational waves and photons and in neutrinos and photons. Today we live in the dawn of the multimessenger era. The successes of the multimessenger campaigns of the last decade have pushed multimessenger science to the forefront of priority science areas in both the particle physics and the astrophysics communities. Multimessenger science provides new methods of testing fundamental theories about the nature of matter and energy, particularly in conditions that are not reproducible on Earth. This white paper will present the science and facilities that will provide opportunities for the particle physics community renew its commitment and maintain its leadership in multimessenger science. Copyright © 2022, The Authors. All rights reserved.

关键词： Photons

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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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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Brain Tumor Segmentation (BraTS) Challenge 2024: Meningioma Radiotherapy Planning Automated Segmentation

arXiv

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arXiv 2024年

作者： LaBella, Dominic Schumacher, Katherine Mix, Michael Leu, Kevin McBurney-Lin, Shan Nedelec, Pierre Villanueva-Meyer, Javier Shapey, Jonathan Vercauteren, Tom Chia, Kazumi Ivory, Marina Barfoot, Theodore Al-Salihi, Omar Leu, Justin Halasz, Lia Velichko, Yury Wang, Chunhao Kirkpatrick, John Floyd, Scott Reitman, Zachary J. Mullikin, Trey Bagci, Ulas Sachdev, Sean Hattangadi-Gluth, Jona A. Seibert, Tyler M. Farid, Nikdokht Puett, Connor Pease, Matthew W. Shiue, Kevin Anwar, Syed Muhammad Faghani, Shahriar Taylor, Peter Haider, Muhammad Ammar Warman, Pranav Albrecht, Jake Jakab, András Moassefi, Mana Chung, Verena Aristizabal, Alejandro Karargyris, Alexandros Kassem, Hasan Pati, Sarthak Sheller, Micah Coley, Aaron Huang, Christina Ghanta, Siddharth Schneider, Alex Sharp, Conrad Saluja, Rachit Kofler, Florian Lohmann, Philipp Vollmuth, Phillipp Gagnon, Louis Adewole, Maruf Li, Hongwei Bran Kazerooni, Anahita Fathi Tahon, Nourel Hoda Anazodo, Udunna Moawad, Ahmed W. Menze, Bjoern Linguraru, Marius George Aboian, Mariam Wiestler, Benedikt Baid, Ujjwal Conte, Gian-Marco Rauschecker, Andreas M. Nada, Ayman Abayazeed, Aly H. Huang, Raymond de Verdier, Maria Correia Rudie, Jeffrey D. Bakas, Spyridon Calabrese, Evan Department of Radiation Oncology Duke University Medical Center DurhamNC United States Department of Radiation Oncology SUNY Upstate Medical University SyracuseNY United States San FranciscoCA United States Department of Neurosurgery King’s College Hospital London United Kingdom School of Biomedical Engineering and Imaging Sciences King’s College London London United Kingdom Guy’s and St Thomas’ NHS Foundation Trust United Kingdom Department of Radiation Oncology University of Washington SeattleWA United States Department of Radiology Northwestern University EvanstonIL United States Department of Radiation Oncology Northwestern University EvanstonIL United States Department of Radiation Medicine and Applied Sciences University of California San Diego La Jolla CA United States Department of Radiology University of California San Diego La Jolla CA United States Department of Bioengineering University of California San Diego La Jolla CA United States Department of Neurological Surgery Indiana University School of Medicine IndianapolisIN United States Department of Radiation Oncology Indiana University IndianapolisIN United States Children’s National Hospital WashingtonDC United States George Washington University WashingtonDC United States Mayo Clinic RochesterMN United States CMH Lahore Medical College Lahore Pakistan Duke University Medical Center School of Medicine DurhamNC United States Sage Bionetworks United States University of Zürich Zürich Switzerland Artificial Intelligence Lab Department of Radiology Mayo Clinic RochesterMN United States MLCommons United States Factored AI United States Center For Federated Learning in Medicine Indiana University IndianapolisIN United States Division of Computational Pathology Department of Pathology and Laboratory Medicine Indiana University School of Medicine IndianapolisIN United States Medical Working Group MLCommons San FranciscoCA United States Intel United States Duke Universi

The 2024 Brain Tumor Segmentation Meningioma Radiotherapy (BraTS-MEN-RT) challenge aims to advance automated segmentation algorithms using the largest known multi-institutional dataset of 750 radiotherapy planning brain MRIs with expert-annotated target labels for patients with intact or postoperative meningioma that underwent either conventional external beam radiotherapy or stereotactic radiosurgery. Each case includes a defaced 3D post-contrast T1-weighted radiotherapy planning MRI in its native acquisition space, accompanied by a single-label "target volume" representing the gross tumor volume (GTV) and any at-risk postoperative site. Target volume annotations adhere to established radiotherapy planning protocols, ensuring consistency across cases and institutions. For preoperative meningiomas, the target volume encompasses the entire GTV and associated nodular dural tail, while for postoperative cases, it includes at-risk resection cavity margins as determined by the treating institution. Case annotations were reviewed and approved by expert neuroradiologists and radiation oncologists. Participating teams will develop, containerize, and evaluate automated segmentation models using this comprehensive dataset. Model performance will be assessed using an adapted lesion-wise Dice Similarity Coefficient and the 95% Hausdorff distance. The top-performing teams will be recognized at the Medical Image Computing and Computer Assisted Intervention Conference in October 2024. BraTS-MEN-RT is expected to significantly advance automated radiotherapy planning by enabling precise tumor segmentation and facilitating tailored treatment, ultimately improving patient outcomes. © 2024, CC BY.

关键词： Radiotherapy

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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Highlights from the 11th ISCB Student Council Symposium 2015. Dublin, Ireland. 10 July 2015

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BMC bioinformatics 2016年第Sup3期17 Suppl 3卷 95页

作者： Katie Wilkins Mehedi Hassan Margherita Francescatto Jakob Jespersen R. Gonzalo Parra Bart Cuypers Dan DeBlasio Alexander Junge Anupama Jigisha Farzana Rahman Griet Laenen Sander Willems Lieven Thorrez Yves Moreau Nagarajan Raju Sonia Pankaj Chothani C. Ramakrishnan Masakazu Sekijima M. Michael Gromiha Paddy J Slator Nigel J Burroughs Przemysław Szałaj Zhonghui Tang Paul Michalski Oskar Luo Xingwang Li Yijun Ruan Dariusz Plewczynski Giulia Fiscon Emanuel Weitschek Massimo Ciccozzi Paola Bertolazzi Giovanni Felici Bart Cuypers Pieter Meysman Manu Vanaerschot Maya Berg Hideo Imamura Jean-Claude Dujardin Kris Laukens Westa Domanova James R. Krycer Rima Chaudhuri Pengyi Yang Fatemeh Vafaee Daniel J. Fazakerley Sean J. Humphrey David E. James Zdenka Kuncic Plant Pathology and Plant-Microbe Biology Section School of Integrative Plant Science Cornell University Ithaca NY USA Graduate Field of Computational Biology Cornell University Ithaca NY USA School of Computing & Mathematics University of South Wales Cardiff UK Department of Genome Biology for Neurodegenerative Diseases German Center for Neurodegenerative Diseases (DZNE) within the Helmholtz Association ᅟ Germany Department of Surgery Massachusetts General Hospital The Broad Institute of MIT and Harvard Boston USA Department of Systems Biology Technical University of Denmark Kemitorvet Denmark Protein Physiology Lab Facultad de Ciencias Exactas y Naturales Universidad de Buenos Aires Buenos Aires Argentina Molecular Parasitology Unit (MPU) Institute of Tropical Medicine Nationalestraat 155 2000 Antwerp Belgium Advanced Database Research and Modeling (ADReM) research group University of Antwerp Middelheimlaan 1 2020 Antwerpen Belgium Department of Computer Science University of Arizona Tucson AZ 84721 USA Department of Veterinary Clinical and Animal Sciences Center for non-coding RNA in Technology and Health University of Copenhagen Copenhagen Denmark University College Dublin Dublin Ireland Department of Electrical Engineering (ESAT) STADIUS Center for Dynamical Systems Signal Processing and Data Analytics KU Leuven Leuven Belgium iMinds Medical IT Department Leuven Belgium Scientific Institute of Public Health (WIV-ISP) Platform of Biotechnology and Molecular Biology (PBB) Brussels Belgium Department of Development and Regeneration @ Kulak KU Leuven Kortrijk Belgium Department of Biotechnology Bhupat and Jyoti Metha School of Biosciences Indian Institute of Technology Madras Chennai 600036 Tamilnadu India Philips Research North America 345 Scarborough Road Briarcliff Manor NY 10510 USA Global Scientific Information and Computing Center (GSIC) Tokyo Institute of Technology 2-12-1 Ookayama Meguro-ku Tokyo 152-8550 Japan Systems Biology C

A1 Highlights from the eleventh ISCB Student Council Symposium 2015 Katie Wilkins, Mehedi Hassan, Margherita Francescatto, Jakob Jespersen, R. Gonzalo Parra, Bart Cuypers, Dan DeBlasio, Alexander Junge, Anupama Jigisha, Farzana Rahman O1 Prioritizing a drug’s targets using both gene expression and structural similarity Griet Laenen, Sander Willems, Lieven Thorrez, Yves Moreau O2 Organism specific protein-RNA recognition: A computational analysis of protein-RNA complex structures from different organisms Nagarajan Raju, Sonia Pankaj Chothani, C. Ramakrishnan, Masakazu Sekijima; M. Michael Gromiha O3 Detection of Heterogeneity in Single Particle Tracking Trajectories Paddy J Slator, Nigel J Burroughs O4 3D-NOME: 3D NucleOme Multiscale Engine for data-driven modeling of three-dimensional genome architecture Przemysław Szałaj, Zhonghui Tang, Paul Michalski, Oskar Luo, Xingwang Li, Yijun Ruan, Dariusz Plewczynski O5 A novel feature selection method to extract multiple adjacent solutions for viral genomic sequences classification Giulia Fiscon, Emanuel Weitschek, Massimo Ciccozzi, Paola Bertolazzi, Giovanni Felici O6 A Systems Biology Compendium for Leishmania donovani Bart Cuypers, Pieter Meysman, Manu Vanaerschot, Maya Berg, Hideo Imamura, Jean-Claude Dujardin, Kris Laukens O7 Unravelling signal coordination from large scale phosphorylation kinetic data Westa Domanova, James R. Krycer, Rima Chaudhuri, Pengyi Yang, Fatemeh Vafaee, Daniel J. Fazakerley, Sean J. Humphrey, David E. James, Zdenka Kuncic

关键词： Visceral Leishmaniasis Feature Selection Method Frequent Itemset Mining Leishmania Donovani Student Council

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

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Nature genetics 2025年 2025 May 13页

作者： Nora I Strom Zachary F Gerring Marco Galimberti Dongmei Yu Matthew W Halvorsen Abdel Abdellaoui Cristina Rodriguez-Fontenla Julia M Sealock Tim Bigdeli Jonathan R Coleman Behrang Mahjani Jackson G Thorp Katharina Bey Christie L Burton Jurjen J Luykx Gwyneth Zai Silvia Alemany Christine Andre Kathleen D Askland Julia Bäckman Nerisa Banaj Cristina Barlassina Judith Becker Nissen O Joseph Bienvenu Donald Black Michael H Bloch Sigrid Børte Rosa Bosch Michael Breen Brian P Brennan Helena Brentani Joseph D Buxbaum Jonas Bybjerg-Grauholm Enda M Byrne Judit Cabana-Dominguez Beatriz Camarena Adrian Camarena Carolina Cappi Angel Carracedo Miguel Casas Maria Cristina Cavallini Valentina Ciullo Edwin H Cook Jesse Crosby Bernadette A Cullen Elles J De Schipper Richard Delorme Srdjan Djurovic Jason A Elias Xavier Estivill Martha J Falkenstein Bengt T Fundin Lauryn Garner Christina Gironda Fernando S Goes Marco A Grados Jakob Grove Wei Guo Jan Haavik Kristen Hagen Kelly Harrington Alexandra Havdahl Kira D Höffler Ana G Hounie Donald Hucks Christina Hultman Magdalena Janecka Eric Jenike Elinor K Karlsson Kara Kelley Julia Klawohn Janice E Krasnow Kristi Krebs Christoph Lange Nuria Lanzagorta Daniel Levey Kerstin Lindblad-Toh Fabio Macciardi Brion Maher Brittany Mathes Evonne McArthur Nathaniel McGregor Nicole C McLaughlin Sandra Meier Euripedes C Miguel Maureen Mulhern Paul S Nestadt Erika L Nurmi Kevin S O'Connell Lisa Osiecki Olga Therese Ousdal Teemu Palviainen Nancy L Pedersen Fabrizio Piras Federica Piras Sriramya Potluri Raquel Rabionet Alfredo Ramirez Scott Rauch Abraham Reichenberg Mark A Riddle Stephan Ripke Maria C Rosário Aline S Sampaio Miriam A Schiele Anne Heidi Skogholt Laura G Sloofman Jan Smit María Soler Artigas Laurent F Thomas Eric Tifft Homero Vallada Nathanial van Kirk Jeremy Veenstra-VanderWeele Nienke N Vulink Christopher P Walker Ying Wang Jens R Wendland Bendik S Winsvold Yin Yao Hang Zhou Arpana Agrawal Pino Alonso Götz Berberich Kathleen K Bucholz Cynthia M Bulik Danielle Cath Damiaan Denys Valsamma E Department of Psychology Humboldt-Universität zu Berlin Berlin Germany. nora.strom@hu-berlin.de. Department of Psychiatric Phenomics and Genomics (IPPG) Ludwig-Maximilians University Munich Munich Germany. nora.strom@hu-berlin.de. Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet and Stockholm Health Services Region Stockholm Stockholm Sweden. nora.strom@hu-berlin.de. Department of Biomedicine Aarhus University Aarhus Denmark. nora.strom@hu-berlin.de. University Hospital of Psychiatry and Psychotherapy University of Bern Bern Switzerland. nora.strom@hu-berlin.de. Department of Mental Health and Neuroscience Translational Neurogenomics QIMR Berghofer Medical Research Institute Brisbane Queensland Australia. Department of Population Health and Immunity Healthy Development and Ageing Walter and Eliza Hall Institute of Medical Research Melbourne Victoria Australia. Department of Psychiatry Human Genetics Yale University New Haven CT USA. VA Connecticut Healthcare System West Haven CT USA. Department of Center for Genomic Medicine Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston MA USA. Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA. Department of Genetics University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Psychiatry Amsterdam University Medical Centers University of Amsterdam Amsterdam the Netherlands. Center for Research in Molecular Medicine and Chronic Diseases (CiMUS) Genomics and Bioinformatics University of Santiago de Compostela Santiago de Compostela Spain. Grupo de Medicina Xenómica Genetics Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS) Santiago de Compostela Spain. Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA. Department of Psychiatry and Behavioral Sciences SUNY Downstate Health Sciences University Brooklyn NY USA. VA NY Harbor Healthcare System

Obsessive-compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along with D and D type dopamine receptor-containing medium spiny neurons. OCD genetic risk was shared with 65 of 112 additional phenotypes, including all the psychiatric disorders we examined. In particular, OCD shared genetic risk with anxiety, depression, anorexia nervosa and Tourette syndrome and was negatively associated with inflammatory bowel diseases, educational attainment and body mass index.

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Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

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Nature genetics 2021年第12期53卷 1722页

作者： Douglas P Wightman Iris E Jansen Jeanne E Savage Alexey A Shadrin Shahram Bahrami Dominic Holland Arvid Rongve Sigrid Børte Bendik S Winsvold Ole Kristian Drange Amy E Martinsen Anne Heidi Skogholt Cristen Willer Geir Bråthen Ingunn Bosnes Jonas Bille Nielsen Lars G Fritsche Laurent F Thomas Linda M Pedersen Maiken E Gabrielsen Marianne Bakke Johnsen Tore Wergeland Meisingset Wei Zhou Petroula Proitsi Angela Hodges Richard Dobson Latha Velayudhan Karl Heilbron Adam Auton Julia M Sealock Lea K Davis Nancy L Pedersen Chandra A Reynolds Ida K Karlsson Sigurdur Magnusson Hreinn Stefansson Steinunn Thordardottir Palmi V Jonsson Jon Snaedal Anna Zettergren Ingmar Skoog Silke Kern Margda Waern Henrik Zetterberg Kaj Blennow Eystein Stordal Kristian Hveem John-Anker Zwart Lavinia Athanasiu Per Selnes Ingvild Saltvedt Sigrid B Sando Ingun Ulstein Srdjan Djurovic Tormod Fladby Dag Aarsland Geir Selbæk Stephan Ripke Kari Stefansson Ole A Andreassen Danielle Posthuma Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU Amsterdam Amsterdam the Netherlands. NORMENT Centre University of Oslo Oslo Norway. Institute of Clinical Medicine University of Oslo Oslo Norway. Division of Mental Health and Addiction Oslo University Hospital Oslo Norway. Department of Neurosciences University of California San Diego La Jolla CA USA. Department of Research and Innovation Helse Fonna Haugesund Hospital Haugesund Norway. The University of Bergen Institute of Clinical Medicine (K1) Bergen Norway. Research and Communication Unit for Musculoskeletal Health (FORMI) Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway. K. G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway. Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway. Department of Neurology Oslo University Hospital Oslo Norway. Department of Mental Health Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway. Division of Mental Health Care St. Olavs Hospital Trondheim University Hospital Trondheim Norway. Department of Clinical and Molecular Medicine Norwegian University of Science and Technology Trondheim Norway. Department of Internal Medicine Division of Cardiovascular Medicine University of Michigan Ann Arbor MI USA. Department of Neuromedicine and Movement Science Norwegian University of Science and Technology Trondheim Norway. Department of Neurology and Clinical Neurophysiology University Hospital of Trondheim Trondheim Norway. Department of Geriatrics St. Olav's Hospital Trondheim University Hospital Trondheim Norway. Department of Psychiatry Hospital Namsos Nord-Trøndelag Health Trust Namso

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Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

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NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

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