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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

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Nature genetics 2023年第3期55卷 519-520页

作者： Ceres Fernandez-Rozadilla Maria Timofeeva Zhishan Chen Philip Law Minta Thomas Stephanie Schmit Virginia Díez-Obrero Li Hsu Juan Fernandez-Tajes Claire Palles Kitty Sherwood Sarah Briggs Victoria Svinti Kevin Donnelly Susan Farrington James Blackmur Peter Vaughan-Shaw Xiao-Ou Shu Jirong Long Qiuyin Cai Xingyi Guo Yingchang Lu Peter Broderick James Studd Jeroen Huyghe Tabitha Harrison David Conti Christopher Dampier Mathew Devall Fredrick Schumacher Marilena Melas Gad Rennert Mireia Obón-Santacana Vicente Martín-Sánchez Ferran Moratalla-Navarro Jae Hwan Oh Jeongseon Kim Sun Ha Jee Keum Ji Jung Sun-Seog Kweon Min-Ho Shin Aesun Shin Yoon-Ok Ahn Dong-Hyun Kim Isao Oze Wanqing Wen Keitaro Matsuo Koichi Matsuda Chizu Tanikawa Zefang Ren Yu-Tang Gao Wei-Hua Jia John Hopper Mark Jenkins Aung Ko Win Rish Pai Jane Figueiredo Robert Haile Steven Gallinger Michael Woods Polly Newcomb David Duggan Jeremy Cheadle Richard Kaplan Timothy Maughan Rachel Kerr David Kerr Iva Kirac Jan Böhm Lukka-Pekka Mecklin Pekka Jousilahti Paul Knekt Lauri Aaltonen Harri Rissanen Eero Pukkala Johan Eriksson Tatiana Cajuso Ulrika Hänninen Johanna Kondelin Kimmo Palin Tomas Tanskanen Laura Renkonen-Sinisalo Brent Zanke Satu Männistö Demetrius Albanes Stephanie Weinstein Edward Ruiz-Narvaez Julie Palmer Daniel Buchanan Elizabeth Platz Kala Visvanathan Cornelia Ulrich Erin Siegel Stefanie Brezina Andrea Gsur Peter Campbell Jenny Chang-Claude Michael Hoffmeister Hermann Brenner Martha Slattery John Potter Konstantinos Tsilidis Matthias Schulze Marc Gunter Neil Murphy Antoni Castells Sergi Castellví-Bel Leticia Moreira Volker Arndt Anna Shcherbina Mariana Stern Bens Pardamean Timothy Bishop Graham Giles Melissa Southey Gregory Idos Kevin McDonnell Zomoroda Abu-Ful Joel Greenson Katerina Shulman Flavio Lejbkowicz Kenneth Offit Yu-Ru Su Robert Steinfelder Temitope Keku Bethany van Guelpen Thomas Hudson Heather Hampel Rachel Pearlman Sonja Berndt Richard Hayes Marie Elena Martinez Sushma Thomas Douglas Corley Paul Pharoah Susanna Larsson Yun Yen Heinz-Jo Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK. Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain. Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK. Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark. Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA. Division of Genetics and Epidemiology Institute of Cancer Research London UK. Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA. Genomic Medicine Institute Cleveland Clinic Cleveland OH USA. Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA. Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain. Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain. Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain. Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain. Department of Biostatistics School of Public Health University of Washington Seattle WA USA. Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK. Department of Public Health Richard Doll Building University of Oxford Oxford UK. Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA. Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA. Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA. De

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Author Correction: A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing

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Nature communications 2022年第1期13卷 2828页

作者： Sanju Sinha Karina Barbosa Kuoyuan Cheng Mark D M Leiserson Prashant Jain Anagha Deshpande David M Wilson Bríd M Ryan Ji Luo Ze'ev A Ronai Joo Sang Lee Aniruddha J Deshpande Eytan Ruppin Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20892 USA. Laboratory of Human Carcinogenesis Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20850 USA. Center for Bioinformatics and Computational Biology University of Maryland College Park MD 20742 USA. Tumor Initiation Program Cancer Center Sanford Burnham Prebys Medical Discovery Institute La Jolla CA 92037 USA. Laboratory of Molecular Gerontology National Institute on Aging Intramural Research Program National Institutes of Health Baltimore MD 21224 USA. Laboratory of Cancer Biology and Genetics Center for Cancer Research National Cancer Institute National Institute of Health Bethesda MD 20850 USA. Samsung Medical Center Sungkyunkwan University School of Medicine Suwon 16419 Republic of Korea. Department of Precision Medicine School of Medicine and Department of Artificial Intelligence Sungkyunkwan University Suwon 16419 Republic of Korea. Tumor Initiation Program Cancer Center Sanford Burnham Prebys Medical Discovery Institute La Jolla CA 92037 USA. adeshpande@***. Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD 20892 USA. eytan.ruppin@nih.gov.

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OTHR-04. DEVELOPMENT OF A FUNCTIONAL PLATFORM FOR REAL-TIME PERSONALIZED DRUG SENSITIVITY PROFILING OF PATIENT-DERIVED 3D FRESH TUMOR TISSUE CULTURES IN THE PEDIATRIC PRECISION ONCOLOGY PROGRAM INFORM

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Neuro-Oncology 2023年第SUPPLEMENT_1期25卷 i74–i75页

作者： Heike Peterziel Nora Jamaladdin Dina ElHarouni Xenia F Gerloff Sonja Herter Petra Fiesel Yannick Berker Mirjam Blattner-Johnson Kathrin Schramm Barbara C Jones David Reuss Laura Turunen Aileen Friedenauer Tim Holland-Letz Martin Sill Lena Weiser Christopher Previti Gnanaprakash Balasubramanian Nicolas U Gerber Johannes Gojo Caroline Hutter Ingrid Øra Olli Lohi Antonis Kattamis Bram de Wilde Frank Westermann Stephan Tippelt Norbert Graf Michaela Nathrath Monika Sparber-Sauer Astrid Sehested Christof M Kramm Uta Dirksen Olli Kallioniemi Stefan M Pfister Cornelis M van Tilburg David T W Jones Jani Saarela Vilja Pietiäinen Natalie Jäger Matthias Schlesner Annette Kopp-Schneider Sina Oppermann Till Milde Olaf Witt Ina Oehme Hopp Children’s Cancer Center Heidelberg (KiTZ) Heidelberg Germany Clinical Cooperation Unit Pediatric Oncology German Cancer Research Center (DKFZ) National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Consortium (DKTK) Heidelberg Germany Bioinformatics and Omics Data Analytics German Cancer Research Center (DKFZ) Division of Pediatric Neurooncology German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK) Heidelberg Germany Clinical Cooperation Unit Neuropathology German Cancer Research Center (DKFZ) Heidelberg Germany Division of Pediatric Glioma Research German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK) Heidelberg Germany Division of Pediatric Glioma Research German Cancer Research Center (DKFZ) Department of Pediatric Oncology Hematology Immunology and Pulmonology Heidelberg University Hospital and German Cancer Consortium (DKTK) Heidelberg Germany Department Neuropathology at Institute of Pathology Heidelberg University Hospital Heidelberg Germany Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Division of Biostatistics German Cancer Research Center (DKFZ) Heidelberg Heidelberg Germany Division of Pediatric Neurooncology German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK) Heidelberg Germany Core Facility Omics IT and Data Management (ODCF) German Cancer Research Center (DKFZ) Heidelberg Germany Department of Oncology University Children’s Hospital Zürich Zürich Switzerland Department of Pediatrics and Adolescent Medicine Comprehensive Cancer Center and Comprehensive Center for Pediatrics Medical University of Vienna Vienna Austria St. Anna Children’s Hospital Department of Pediatrics and Adolescent Medicine Medical University of Vienna and St. Anna Children’s Cancer Research Institute (CCRI) Vienna Austria Children’s Hospital Pediatric Oncology Skåne University Hospital Lund &amp Karolinska Univ

The international precision oncology program INFORM enrolls relapsed/refractory pediatric cancer patients for comprehensive molecular analysis. We report a two-year pilot study implementing ex vivo drug sensitivity profiling (DSP) using a library of 75-78 clinically relevant drugs. We included 132 viable tumor samples from 35 pediatric oncology centers in seven countries. DSP was conducted on multicellular fresh tumor tissue spheroid cultures in 384-well plates with an overall mean processing time of three weeks. In 89 cases (67%), sufficient viable tissue was received; 69 (78%) passed internal quality controls. The DSP results matched the identified molecular targets, including BRAF, ALK, MET and TP53 status. Drug vulnerabilities were identified in 80% of cases lacking actionable (very) high-evidence molecular events, adding value to the molecular data. Striking parallels between clinical courses and the DSP results were observed in selected patients. Overall, DSP in clinical real-time is feasible in international multicenter precision oncology programs.

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Design and energy assessment of a new hybrid solar drying dome - Enabling Low-Cost, Independent and Smart Solar Dryer for Indonesia Agriculture 4.0

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IOP Conference Series: Earth and Environmental science 2022年第1期998卷

作者： F E Gunawan A S Budiman B Pardamean E Djuana S Romeli N Hananda C Harito D P B Aji D N N Putri Stevanus Industrial Engineering Department BINUS Graduate Program - Master of Industrial Engineering Bina Nusantara University Jakarta Indonesia 11480 Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta 11480 Indonesia Computer Science Department BINUS Graduate Program - Master of Computer Science Bina Nusantara University Jakarta Indonesia 11480 Electrical Engineering Department Faculty of Industrial Technology Universitas Trisakti Jakarta 11440 Indonesia PT. Impack Pratama Industri Jakarta Indonesia Industrial Engineering Department Faculty of Engineering Bina Nusantara University Jakarta 11480 Indonesia. Mechanical Engineering Department. Faculty of Industrial Technology Universitas Trisakti Jakarta 11440 Indonesia

Solar dryer is typically used for agricultural purposes in Indonesia. There are many economically important crops requiring storage or drying under particular environmental conditions such as temperature and humidity. High temperatures inside solar dryer prevents the growth of microorganism, and quickly reduce moisture content from the substance. A hybrid solar dryer is generally considered to provide the most optimum solution, however solar panels may be expensive and they still only provide heat or energy in the daytime. Hence, we propose here a new kind of hybrid solar dryer for 24/7 optimum conditions for crops - enabled by recent advances in energy technologies as well as Industry 4.0. This study aims to create an efficient, affordable and a self-sufficient intelligent energy system that will be applied to agriculture for storage or drying purposes by measuring the energy needs for the optimal drying system. Therefore, it is crucial to estimate and assess the critical energy needs for such new systems in order to optimize and design such smart solar dryer (SSD) system especially for Indonesia's agricultural needs. We use design experience of our industry partner (PT Impack Pratama Industri, Indonesia) who has been working extensively on such solar dryer dome (SDD) based on polycarbonate material (only solar irradiation, no other technologies) and theoretical framework based on first principles in thermodynamics to estimate and assess critical energy needs for such dome with all the smart technologies. The calculation was performed based on Mollier diagram and the result still a rough estimation of energy required.

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GREGoR: Accelerating Genomics for Rare Diseases

arXiv

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arXiv 2024年

作者： Dawood, Moez Heavner, Ben Wheeler, Marsha M. Ungar, Rachel A. LoTempio, Jonathan Wiel, Laurens Berger, Seth Bernstein, Jonathan A. Chong, Jessica X. Délot, Emmanuèle C. Eichler, Evan E. Gibbs, Richard A. Lupski, James R. Shojaie, Ali Talkowski, Michael E. Wagner, Alex H. Wei, Chia-Lin Wellington, Christopher Wheeler, Matthew T. Carvalho, Claudia M.B. Gifford, Casey A. May, Susanne Miller, Danny E. Rehm, Heidi L. Sedlazeck, Fritz J. Vilain, Eric O'Donnell-Luria, Anne Posey, Jennifer E. Chadwick, Lisa H. Bamshad, Michael J. Montgomery, Stephen B. Human Genome Sequencing Center Baylor College of Medicine HoustonTX United States Department of Molecular and Human Genetics Baylor College of Medicine HoustonTX United States Medical Scientist Training Program Baylor College of Medicine HoustonTX United States Department of Biostatistics University of Washington SeattleWA United States Department of Genetics School of Medicine Stanford University StanfordCA United States Department of Pathology School of Medicine Stanford University Stanford CA United States Stanford Center for Biomedical Ethics School of Medicine Stanford University Stanford CA United States Institute for Clinical and Translational Science University of California IrvineCA United States Division of Cardiovascular Medicine School of Medicine Stanford University Stanford CA United States Division of Genetics and Metabolism Children’s National Rare Disease Institute WashingtonDC United States Center for Genetic Medicine Research Children’s National Rare Disease Institute WashingtonDC United States Department of Genomics and Precision Medicine George Washington University WashingtonDC United States Department of Pediatrics School of Medicine Stanford University Stanford CA United States Department of Pediatrics Dvision of Genetic Medicine University of Washington SeattleWA United States Brotman Baty Institute for Precision Medicine University of Washington SeattleWA United States Department of Genome Sciences University of Washington SeattleWA United States Howard Hughes Medical Institute University of Washington SeattleWA United States Department of Pediatrics Baylor College of Medicine HoustonTX United States Center for Genomic Medicine Massachusetts General Hospital BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard BostonMA United States Department of Neurology Massachusetts General Hospital Harvard Medical School BostonMA United States Stanley Center for

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic data science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://***/data). The majority of these families have undergone prior clinical genetic testing but remained unsolved, with most being exome-negative. Here, we describe the collaborative research framework, datasets, and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics. © 2024, CC BY.

关键词： Genome

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Maternal human papillomavirus infection and the risk of congenital malformations: A nationwide population-based cohort study

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Journal of Medical Virology 2024年第4期96卷 e29549-e29549页

作者： Hsieh, Tina Yi Jin Chen, Thomas Yen Ting Liao, Pei-Lun Huang, Jing-Yang Ma, Kevin Sheng-Kai Hung, Yao-Min Chang, Renin Wei, James Cheng-Chung Department of Obstetrics and Gynecology Beth Israel Deaconess Medical Center Boston MA United States Department of Bioinformatics Harvard Medical School Boston MA United States Department of Otolaryngology-Head and Neck Surgery Kaohsiung Medical University Hospital Kaohsiung Taiwan Institute of Medicine Chung Shan Medical University Taichung Taiwan Center for Health Data Science Department of Medical Research Chung Shan Medical University Hospital Taichung Taiwan Department of Epidemiology Harvard T.H. Chan School of Public Health Boston MA United States Department of Dermatology Massachusetts General Hospital Boston MA United States Division of Pharmacoepidemiology and Pharmacoeconomics Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA United States Center for Global Health Perelman School of Medicine University of Pennsylvania Philadelphia PA United States Division of Nephrology Department of Internal Medicine Taipei Veterans General Hospital Taitung Branch Taipei Taiwan Master Program in Biomedicine College of Science and Engineering National Taitung University Taitung Taiwan College of Health and Nursing Meiho University Pingtung Taiwan Department of Medical Education and Research Kaohsiung Veterans General Hospital Kaohsiung Taiwan Department of Emergency Medicine Kaohsiung Veterans General Hospital Kaohsiung Taiwan Department of Recreation and Sports Management Tajen University Pingtung Taiwan Department of Allergy Immunology & Rheumatology Chung Shan Medical University Hospital Taichung Taiwan Department of Nursing Chung Shan Medical University Taichung Taiwan Graduate Institute of Integrated Medicine China Medical University Taichung Taiwan Department of Medical Research Taichung Veterans General Hospital Taichung Taiwan

Previous research has explored theories regarding the vertical transmission of human papillomavirus (HPV) infection and its association with adverse pregnancy and perinatal outcomes. However, the impact of maternal HPV infection on congenital anomalies (CAs) in offspring remains relatively understudied. We conducted a population-based cohort study linking the Taiwan Birth Registry, Taiwan Death Registry, and National Health Insurance research database, in which newborns born in Taiwan between 2009 and 2015 were included. We established a maternal HPV infection cohort comprising 37 807 newborns and matched them with a comparison group of 151 228 newborns at a 1:4 ratio based on index year, age, and sex. The study examined a composite outcome and subgroups of different types of congenital malformations. Differences in cumulative incidence of CAs were assessed using Kaplan–Meier curves and log-rank tests. Adjusted hazard ratios (aHRs) were estimated using Cox proportional hazard regressions. No significant association was found between HPV infection and the broad spectrum of CAs (aHR: 1.04, 95% confidence interval [CI]: 0.98–1.10;log-rank test p = 0.14). However, we observed a 19% increased risk of musculoskeletal CAs in the maternal HPV infection group (aHR: 1.19;95% CI: 1.05–1.34) compared to those without maternal HPV exposure. Other factors, including the type of HPV (aHR: 0.65;95% CI: 0.16–2.63), the timing of exposure (during or before pregnancy), and maternal age (aHR for <30 years: 1.02, 95% CI: 0.94–1.1;aHR for 30–39 years: 1.05, 95% CI: 0.99–1.11;aHR for ≥40 years: 0.88, 95% CI: 0.67–1.17), did not significantly affect the risk for any CA. In conclusion, gestation detection of HPV infection was associated with musculoskeletal CAs but not other major CAs. Prospective studies are warranted to elucidate the necessity of prenatal screening in populations at risk. © 2024 Wiley Periodicals LLC.

关键词： adverse pregnancy congenital malformations human papillomavirus infection outcomes

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High-depth African genomes inform human migration and health (vol 586, pg 741, 2020)

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NATURE 2021年第7856期592卷 E26-E26页

作者： Choudhury, Ananyo Aron, Shaun Botigue, Laura R. Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Muzny, Donna Metcalf, Ginger Gibbs, Richard A. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Rotimi, Charles Ramsay, Michele Choudhury, Ananyo Choudhury, Ananyo Aron, Shaun Botigue, Laura Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Rotimi, Charles Ramsay, Michele Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Adebamowo, Clement Agongo, Godfred Boua, Romuald P. Oduro, Abraham Sorgho, Hermann Landoure, Guida Cisse, Lassana Diarra, Salimata Samassekou, Oumar Anabwani, Gabriel Matshaba, Mogomotsi Joloba, Moses Kekitiinwa, Adeodata Mardon, Graeme Mpoloka, Sununguko W. Kyobe, Samuel Mlotshwa, Busisiwe Mwesigwa, Savannah Retshabile, Gaone Williams, Lesedi Wonkam, Ambroise Moussa, Ahmed Adu, Dwomoa Ojo, Akinlolu Burke, David Salako, Babatunde O. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Awadalla, Philip Bruat, Vanessa Gbeha, Elias Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa School of Electrical and Information Engineering University of the Witwatersrand Johannesburg South Africa Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa Navrongo Health Research Centre Navrongo Ghana Clinical Research Unit of Nanoro Institut de Recherche en Sciences de la Sante Bobo-Dioulasso Burkina Faso Center for Research in Agricultural Genomics (CRAG) Plant and Animal Genomics Program CSIC-IRTA-UAB-UB Barcelona Spain Computational Biology Division and H3ABioNet Department of Integrative Biomedical Sciences IDM University of Cape Town Cape Town South Africa System and Data Engineering Team Abdelmalek Essaadi University ENSA Tangier Morocco Centre for Proteomic and Genomic Research (CPGR) Cape Town South Africa South African National Bioinformatics Institute University of the Western Cape Bellville South Africa Africa Health Research Institute Durban South Africa Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA Department of Agriculture and Food Science Faculty of Agriculture University of Mauritius Reduit Mauritius Department of Digital Technologies Faculty of Information Communication & Digital Technologies University of Mauritius Reduit Mauritius Department of Public Health and Primary Care University of Cambridge Cambridge UK Institute of Human Virology Nigeria Abuja Nigeria Department of Epidemiology and Public Health University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA University of Maryland Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA Institute of Human Virology and Greeneba

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JS08.6.A A connectivity signature for glioblastoma

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Neuro-Oncology 2022年第SUPPLEMENT_2期24卷 ii8-ii9页

作者： Hoffmann, D C Hai, L Wagener, R Mandelbaum, H Xie, R Hausmann, D Dominguez Azorín, D Weil, S Sievers, P Cebulla, G Ito, J Warnken, U Venkataramani, V Ernst, K Reibold, D Will, R Suvà, M L Herold-Mende, C Sahm, F Winkler, F Schlesner, M Wick, W Kessler, T Clinical Cooperation Unit Neurooncology German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Department of Neurology and Neurooncology Program National Center for Tumor Diseases Heidelberg University Hospital Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Bioinformatics and Omics Data Analytics DKFZ Heidelberg Germany Department of Neuropathology Institute of Pathology University Hospital Heidelberg Heidelberg Germany Clinical Cooperation Unit Neuropathology DKTK DKFZ Heidelberg Germany Department of Neuroanatomy Institute for Anatomy and Cell Biology Heidelberg University Heidelberg Germany Hopp Children's Cancer Center at the NCT Heidelberg (KiTZ) Heidelberg Germany Division of Pediatric Neurooncology DKTK DKFZ Heidelberg Germany Genomics and Proteomics Core Facility DKTK DKFZ Heidelberg Germany Broad Institute of Harvard and MIT Cambridge MA United States Department of Pathology and Center for Cancer Research Massachusetts General Hospital and Harvard Medical School Boston MA United States Department of Neurosurgery Heidelberg University Hospital Heidelberg Germany Biomedical Informatics Data Mining and Data Analytics Faculty of Applied Computer Science and Medical Faculty University of Augsburg Augsburg Germany

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Author Correction: Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans

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Nature communications 2020年第1期11卷 700页

作者： Khadijah A Mitchell Noah Nichols Wei Tang Jennifer Walling Holly Stevenson Marbin Pineda Roxana Stefanescu Daniel C Edelman Andrew T Girvin Adriana Zingone Sanju Sinha Elise Bowman Emily L Rossi Rony F Arauz Yuelin Jack Zhu Justin Lack Elizabeth Weingartner Joshua J Waterfall Sharon R Pine John Simmons Paul Meltzer Bríd M Ryan Laboratory of Human Carcinogenesis Center for Cancer Research National Cancer Institute Bethesda MD 20892 USA. Genetics Branch Center for Cancer Research National Cancer Institute Bethesda MD 20892 USA. Palantir Technologies 1025 Thomas Jefferson St Washington DC 20007 USA. Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute Bethesda MD 20892 USA. NIAID Collaborative Bioinformatics Resource National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD 20892 USA. Advanced Biomedical Computational Science Frederick National Laboratory for Cancer Research sponsored by the National Cancer Institute Frederick MD 21702 USA. Personal Genome Diagnostics Baltimore MD 21124 USA. Rutgers Cancer Institute of New Jersey Robert Wood Johnson Medical School Rutgers The State University of New Jersey New Brunswick NJ 08854 USA. Laboratory of Human Carcinogenesis Center for Cancer Research National Cancer Institute Bethesda MD 20892 USA. Brid.Ryan@nih.gov.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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