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Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

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BMC genomics 2016年第6期17 Suppl 6卷 487页

作者： Jerry W. Shay Noriko Homma Ruyun Zhou Muhammad Imran Naseer Adeel G. Chaudhary Mohammed Al-Qahtani Nobutaka Hirokawa Maryam Goudarzi Albert J. Fornace Saleh Baeesa Deema Hussain Mohammed Bangash Fahad Alghamdi Hans-Juergen Schulten Angel Carracedo Ishaq Khan Hanadi Qashqari Nawal Madkhali Mohamad Saka Kulvinder S. Saini Awatif Jamal Jaudah Al-Maghrabi Adel Abuzenadah Adeel Chaudhary Mohammed Al Qahtani Ghazi Damanhouri Heba Alkhatabi Anne Goodeve Laura Crookes Nikolas Niksic Nicholas Beauchamp Adel M. Abuzenadah Jim Vaught Bruce Budowle Mourad Assidi Abdelbaset Buhmeida Leena Merdad Sudhir Kumar Sayaka Miura Karen Gomez Mahmood Rasool Ahmed Rebai Sajjad Karim Hend F. Nour Eldin Heba Abusamra Elham M. Alhathli Nada Salem Mohammed H. Al-Qahtani Hossam Faheem Ashok Agarwa Eberhard Nieschlag Joachim Wistuba Oliver S. Damm Mohd A. Beg Taha A. Abdel-Meguid Hisham A. Mosli Osama S. Bajouh Serdar Coskun Muhammad Abu-Elmagd Ashraf Dallol Sahar Hakamy Wejdan Al-Qahtani Asia Al-Harbi Shireen Hussain Burak Ozkosem Rick DuBois Safia S. Messaoudi Maryam T. Dandana Touhami Mahjoub Wassim Y. Almawi S. Abdalla M. Nabil Al-Aama Asmaa Elzawahry Tsuyoshi Takahashi Sachiyo Mimaki Eisaku Furukawa Rie Nakatsuka Isao Kurosaka Takahiko Nishigaki Hiromi Nakamura Satoshi Serada Tetsuji Naka Seiichi Hirota Tatsuhiro Shibata Katsuya Tsuchihara Toshirou Nishida Mamoru Kato Sajid Mehmood Naeem Mahmood Ashraf Awais Asif Muhammad Bilal Malik Siddique Mehmood Aadil Hussain Qazi Mohammad Sajid Jamal Mughees Uddin Siddiqui Mohammad A. Alzohairy Mohammad A. Al Karaawi Taoufik Nedjadi Heba Al-Khattabi Adel Al-Ammari Ahmed Al-Sayyad Hédia Zitouni Nozha Raguema Marwa Ben Ali Wided Malah Raja Lfalah Wassim Almawi Mohammed Elanbari Andrey Ptitsyn Sana Mahjoub Rabeb El Ghali Bechir Achour Nidhal Ben Amor Brahim N’siri Hamid Morjani Esam Azhar Vera Chayeb Maryam Dendena Hedia Zitouni Khedija Zouari-Limayem Bassem Refaat Ahmed M. Ashshi Sarah A. Batwa Hazem Ramadan Amal Awad Ahmed Ateya Adel Galal Ahmed El-Shemi Ahmad Ashshi Mohammed Basalamah Youjin Na Cha University of Texas Southwestern Medical Center Dallas USA Department of Cell Biology and Anatomy Graduate School of Medicine the University of Tokyo Tokyo Japan Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia Department of Biochemistry and Molecular & Cellular Biology Lombardi Comprehensive Cancer Center Georgetown University Washington USA Department of Oncology Lombardi Comprehensive Cancer Center Georgetown University Washington USA Department of Radiation Medicine Lombardi Comprehensive Cancer Center Georgetown University Washington USA Center of Excellence in Genomic Medicine Research (CEGMR) King Abdulaziz University Jeddah Kingdom of Saudi Arabia King Fahd Medical Research Centre King Abdulaziz University Jeddah Saudi Arabia Centre of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia Sheffield Diagnostic Genetic Service Sheffield Children’s NHS Foundation Trust Western Bank Sheffield UK Center of Innovations in Personalized Medicine King Abdulaziz University Jeddah Saudi Arabia President ISBER Editor-in-Chief Biopreservation & Biobanking ᅟ USA Institute of Applied Genetics Department of Molecular and Medical Genetics University of North Texas Health Science Center Fort Worth USA Department of Dental Public Health Faculty of Dentistry King Abdulaziz University Jeddah Saudi Arabia Institute for Genomics and Evolutionary Medicine Temple University Philadelphia USA Center of Excellence in Genomic Medicine King Abdulaziz University Jeddah Kingdom of Saudi Arabia Laboratory of Molecular and Cellular Screening Processes (Bioinformatics Group) Centre of Biotechnology of Sfax Sfax Tunisia Fujitsu Technology Solutions International ᅟ ᅟ Case Western Reserve University School of Medicine and Lerner College of Medicine Cleveland Clinic Foundation Cleveland USA American Center for Reproductive Medicine Andrology Center Cleveland USA Center for Reproductive Medicine and

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J. Fornace Jr. O4 A unique integrated system to discern pathogenesis of central nervous system tumors Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M. Abuzenadah O8 International biobanking in the era of precision medicine Jim Vaught O9 Biobank and biodata for clinical and forensic applications Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors Jaudah Al-Maghrabi O11 The CEGMR biobanking unit: achievements, challenges and future plans Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad O12 Phylomedicine of tumors Sudhir Kumar, Sayaka Miura, Karen Gomez O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment Angel Carracedo, Mahmood Rasool O14 From association to causality: translation of GWAS findings for genomic me

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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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Author Correction: The FLUXNET2015 dataset and the ONEFlux processing pipeline for eddy covariance data

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Scientific data 2021年第1期8卷 72页

作者： Gilberto Pastorello Carlo Trotta Eleonora Canfora Housen Chu Danielle Christianson You-Wei Cheah Cristina Poindexter Jiquan Chen Abdelrahman Elbashandy Marty Humphrey Peter Isaac Diego Polidori Markus Reichstein Alessio Ribeca Catharine van Ingen Nicolas Vuichard Leiming Zhang Brian Amiro Christof Ammann M Altaf Arain Jonas Ardö Timothy Arkebauer Stefan K Arndt Nicola Arriga Marc Aubinet Mika Aurela Dennis Baldocchi Alan Barr Eric Beamesderfer Luca Belelli Marchesini Onil Bergeron Jason Beringer Christian Bernhofer Daniel Berveiller Dave Billesbach Thomas Andrew Black Peter D Blanken Gil Bohrer Julia Boike Paul V Bolstad Damien Bonal Jean-Marc Bonnefond David R Bowling Rosvel Bracho Jason Brodeur Christian Brümmer Nina Buchmann Benoit Burban Sean P Burns Pauline Buysse Peter Cale Mauro Cavagna Pierre Cellier Shiping Chen Isaac Chini Torben R Christensen James Cleverly Alessio Collalti Claudia Consalvo Bruce D Cook David Cook Carole Coursolle Edoardo Cremonese Peter S Curtis Ettore D'Andrea Humberto da Rocha Xiaoqin Dai Kenneth J Davis Bruno De Cinti Agnes de Grandcourt Anne De Ligne Raimundo C De Oliveira Nicolas Delpierre Ankur R Desai Carlos Marcelo Di Bella Paul di Tommasi Han Dolman Francisco Domingo Gang Dong Sabina Dore Pierpaolo Duce Eric Dufrêne Allison Dunn Jiří Dušek Derek Eamus Uwe Eichelmann Hatim Abdalla M ElKhidir Werner Eugster Cacilia M Ewenz Brent Ewers Daniela Famulari Silvano Fares Iris Feigenwinter Andrew Feitz Rasmus Fensholt Gianluca Filippa Marc Fischer John Frank Marta Galvagno Mana Gharun Damiano Gianelle Bert Gielen Beniamino Gioli Anatoly Gitelson Ignacio Goded Mathias Goeckede Allen H Goldstein Christopher M Gough Michael L Goulden Alexander Graf Anne Griebel Carsten Gruening Thomas Grünwald Albin Hammerle Shijie Han Xingguo Han Birger Ulf Hansen Chad Hanson Juha Hatakka Yongtao He Markus Hehn Bernard Heinesch Nina Hinko-Najera Lukas Hörtnagl Lindsay Hutley Andreas Ibrom Hiroki Ikawa Marcin Jackowicz-Korczynski Dalibor Janouš Wilma Jans Rachhpal Jassal Shicheng Jiang Tomomichi Kato Myr Computational Research Division Lawrence Berkeley National Laboratory Berkeley CA 94720 USA. gzpastorello@lbl.gov. DIBAF University of Tuscia Viterbo 01100 Italy. Euro-Mediterranean Centre on Climate Change Foundation (CMCC) Lecce 73100 Italy. Climate & Ecosystem Sciences Division Lawrence Berkeley National Laboratory Berkeley CA 94720 USA. Computational Research Division Lawrence Berkeley National Laboratory Berkeley CA 94720 USA. Department of Civil Engineering California State University Sacramento CA 95819 USA. Department of Geography Environment and Spatial Sciences Michigan State University East Lansing MI 48823 USA. Department of Computer Science University of Virginia Charlottesville VA 22904 USA. TERN Ecosystem Processes Menzies Creek VIC3159 Australia. Max Planck Institute for Biogeochemistry Jena 07701 Germany. Laboratoire des Sciences du Climat et de l'Environnement (LSCE) CEA CNRS UVSQ UPSACLAY Gif sur Yvette 91190 France. Key Laboratory of Ecosystem Network Observation and Modeling Institute of Geographic Sciences and Natural Resources Research Chinese Academy of Sciences Beijing 100101 China. Department of Soil Science University of Manitoba Winnipeg MB R3T2N2 Canada. Department of Agroecology and Environment Agroscope Research Institute Zürich 8046 Switzerland. School of Geography and Earth Sciences McMaster University L8S4K1 Hamilton ON Canada. Department of Physical Geography and Ecosystem Science Lund University Lund 22362 Sweden. Department of Agronomy and Horticulture University of Nebraska-Lincoln Lincoln NE 68583 USA. School of Ecosystem and Forest Sciences The University of Melbourne Richmond VIC3121 Australia. Department of Biology Research Group PLECO University of Antwerp Antwerp 2610 Belgium. Joint Research Centre European Commission Ispra 21027 Italy. TERRA Teaching and Research Center University of Liege Gembloux B-5030 Belgium. Finnish Meteorological Institute Helsinki 00560 Finland. ES

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

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Human genomics 2016年第1期10 Suppl 1卷 12页

作者： A. K. Srivastava Y. Wang R. Huang C. Skinner T. Thompson L. Pollard T. Wood F. Luo R. Stevenson R. Polimanti J. Gelernter X. Lin I. Y. Lim Y. Wu A. L. Teh L. Chen I. M. Aris S. E. Soh M. T. Tint J. L. MacIsaac F. Yap K. Kwek S. M. Saw M. S. Kobor M. J. Meaney K. M. Godfrey Y. S. Chong J. D. Holbrook Y. S. Lee P. D. Gluckman N. Karnani A. Kapoor D. Lee A. Chakravarti C. Maercker F. Graf M. Boutros G. Stamoulis F. Santoni P. Makrythanasis A. Letourneau M. Guipponi N. Panousis M. Garieri P. Ribaux E. Falconnet C. Borel S. E. Antonarakis S. Kumar J. Curran J. Blangero S. Chatterjee J. Akiyama D. Auer C. Berrios L. Pennacchio T. R. Donti G. Cappuccio M. Miller P. Atwal A. Kennedy A. Cardon C. Bacino L. Emrick J. Hertecant F. Baumer B. Porter M. Bainbridge P. Bonnen B. Graham R. Sutton Q. Sun S. Elsea Z. Hu P. Wang Y. Zhu J. Zhao M. Xiong David A. Bennett A. Hidalgo-Miranda S. Romero-Cordoba S. Rodriguez-Cuevas R. Rebollar-Vega E. Tagliabue M. Iorio E. D’Ippolito S. Baroni B. Kaczkowski Y. Tanaka H. Kawaji A. Sandelin R. Andersson M. Itoh T. Lassmann Y. Hayashizaki P. Carninci A. R. R. Forrest C. A. Semple E. A. Rosenthal B. Shirts L. Amendola C. Gallego M. Horike-Pyne A. Burt P. Robertson P. Beyers C. Nefcy D. Veenstra F. Hisama R. Bennett M. Dorschner D. Nickerson J. Smith K. Patterson D. Crosslin R. Nassir N. Zubair T. Harrison U. Peters G. Jarvik F. Menghi K. Inaki X. Woo P. Kumar K. Grzeda A. Malhotra H. Kim D. Ucar P. Shreckengast K. Karuturi J. Keck J. Chuang E. T. Liu B. Ji A. Tyler G. Ananda G. Carter H. Nikbakht M. Montagne M. Zeinieh A. Harutyunyan M. Mcconechy N. Jabado P. Lavigne J. Majewski J. B. Goldstein M. Overman G. Varadhachary R. Shroff R. Wolff M. Javle A. Futreal D. Fogelman L. Bravo W. Fajardo H. Gomez C. Castaneda C. Rolfo J. A. Pinto K. C. Akdemir L. Chin S. Patterson C. Statz S. Mockus S. N. Nikolaev X. I. Bonilla L. Parmentier B. King F. Bezrukov G. Kaya V. Zoete V. Seplyarskiy H. Sharpe T. McKee K. Popadin N. Basset-Seguin R. Ben Chaabene M. Andrianova C. Verdan K. Grosdemange O. Sumara M. E JCSRI Greenwood Genetic Center Greenwood USA School of Computing Clemson University Clemson USA Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood USA Department Psychiatry Yale Sch Med and VA CT Healthcare Center West Haven USA Department Genetics Yale Sch Med and VA CT Healthcare Center West Haven USA Department Neurobiology Yale Sch Med and VA CT Healthcare Center West Haven USA Singapore Institute for Clinical Sciences Singapore Singapore National University of Singapore Singapore Singapore University of British Columbia Vancouver Canada KK Women’s and Children’s Hospital Singapore Singapore University of Southampton and University Hospital Southampton NHS Foundation Trust Southampton UK University of Auckland Auckland New Zealand McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore USA Esslingen University of Applied Sciences Esslingen Germany German Cancer Research Center Heidelberg Germany Department of Genetic Medicine and Development University of Geneva Medical School Geneva Switzerland Geneva University Hospitals-HUG Service of Genetic Medicine Geneva Switzerland GE3 Institute of Genetics and Genomics of Geneva University of Geneva Medical School Geneva Switzerland South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Edinburg USA South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Brownsville USA Institute of Genetic Medicine Johns Hopkins University Baltimore USA Genomics Division Lawrence Berkeley National Laboratory Berkeley USA Molecular and Human Genetics Baylor College of Medicine Houston USA Department of Translational Medical Sciences Federico II University Naples Italy Metabolon Inc Durham USA Section of Pediatric Neurology and Neuroscience Baylor College of Medicine Houston USA Tawam Hospital Abu Dhabi United Arab Emirates Stanford Medical School Stanford USA Sch

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s

关键词： Pulmonary Arterial Hypertension Oral Squamous Cell Carcinoma Deep Neural Network Autosomal Recessive Polycystic Kidney Disease Whole Genome Bisulfite Sequencing

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Estimates, trends, and drivers of the global burden of type 2 diabetes attributable to PM_2·5 air pollution, 1990–2019: an analysis of data from the Global Burden of Disease Study 2019

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The Lancet Planetary Health 2022年第7期6卷 e586-e600页

作者： Burkart, Katrin Causey, Kate Cohen, Aaron J Wozniak, Sarah S Salvi, Devashri Digvijay Abbafati, Cristiana Adekanmbi, Victor Adsuar, Jose C Ahmadi, Keivan Alahdab, Fares Al-Aly, Ziyad Alipour, Vahid Alvis-Guzman, Nelson Amegah, Adeladza Kofi Andrei, Catalina Liliana Andrei, Tudorel Ansari, Fereshteh Arabloo, Jalal Aremu, Olatunde Aripov, Timur Babaee, Ebrahim Banach, MacIej Barnett, Anthony Bärnighausen, Till Winfried Bedi, Neeraj Behzadifar, Masoud Béjot, Yannick Bennett, Derrick A Bensenor, Isabela M Bernstein, Robert S Bhattacharyya, Krittika Bijani, Ali Biondi, Antonio Bohlouli, Somayeh Breitner, Susanne Brenner, Hermann Butt, Zahid A Cámera, Luis Alberto Cantu-Brito, Carlos Carvalho, Felix Cerin, Ester Chattu, Vijay Kumar Chauhan, Bal Govind Choi, Jee-Young Jasmine Chu, Dinh-Toi Dai, Xiaochen Dandona, Lalit Dandona, Rakhi Daryani, Ahmad Davletov, Kairat De Courten, Barbora Demeke, Feleke Mekonnen Denova-Gutiérrez, Edgar Dharmaratne, Samath Dhamminda Dhimal, Meghnath Diaz, Daniel Djalalinia, Shirin Duncan, Bruce B El Sayed Zaki, Maysaa Eskandarieh, Sharareh Fareed, Mohammad Farzadfar, Farshad Fattahi, Nazir Fazlzadeh, Mehdi Fernandes, Eduarda Filip, Irina Fischer, Florian Foigt, Nataliya A Freitas, Marisa Ghashghaee, Ahmad Gill, Paramjit Singh Ginawi, Ibrahim Abdelmageed Gopalani, Sameer Vali Guo, Yuming Gupta, Rajat Das Habtewold, Tesfa Dejenie Hamadeh, Randah R Hamidi, Samer Hankey, Graeme J Hasanpoor, Edris Hassen, Hamid Yimam Hay, Simon I Heibati, Behzad Hole, Michael K Hossain, Naznin Househ, Mowafa Irvani, Seyed Sina Naghibi Jaafari, Jalil Jakovljevic, Mihajlo Jha, Ravi Prakash Jonas, Jost B Jozwiak, Jacek Jerzy Kasaeian, Amir Kaydi, Neda Khader, Yousef Saleh Khafaie, Morteza Abdullatif Khan, Ejaz Ahmad Khan, Junaid Khan, Md Nuruzzaman Khatab, Khaled Khater, Amir M Kim, Yun Jin Kimokoti, Ruth W Kisa, Adnan Kivimäki, Mika Knibbs, Luke D Kosen, Soewarta Koul, Parvaiz A Koyanagi, Ai Defo, Barthelemy Kuate Kugbey, Nuworza Lauriola, Paolo Lee, Paul H Leili, Mostafa Lewycka, Sonia Li, Shanshan Lim, Lee-Ling Li Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Division of Plastic and Reconstructive Surgery University of Washington Seattle WA United States Research Insights and Innovation Seattle WA United States Health Effects Institute Boston MA United States School of Public Health Boston University Boston MA United States Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Population Medicine Cardiff University Cardiff United Kingdom Sport Science Department University of Extremadura Badajoz Spain School of Public Health Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States John T. Milliken Department of Internal Medicine Washington University in St. Louis St. Louis MO United States Clinical Epidemiology Center US Department of Veterans Affairs (VA) St Louis MO United States Health Management and Economics Research Center Iran University of Medical Sciences Tehran Iran Department of Health Economics Iran University of Medical Sciences Tehran Iran Preventive Medicine and Public Health Research Center Iran University of Medical Sciences Tehran Iran Pars Advanced and Minimally Invasive Medical Manners Research Center Iran University of Medical Sciences Tehran Iran Department of Community and Family Medicine Iran University of Medical Sciences Tehran Iran Research Group in Hospital Management and Health Policies Universidad de la Costa (University of the Coast) Barranquilla Colombia Research Group in Health Economics University of Cartagena Cartagena Colombia Department of Biomedical Science University of Cape Coast Cape Coast Ghana Cardiology Department Ca

Background: Experimental and epidemiological studies indicate an association between exposure to particulate matter (PM) air pollution and increased risk of type 2 diabetes. In view of the high and increasing prevalence of diabetes, we aimed to quantify the burden of type 2 diabetes attributable to PM_2·5 originating from ambient and household air pollution. Methods: We systematically compiled all relevant cohort and case-control studies assessing the effect of exposure to household and ambient fine particulate matter (PM_2·5) air pollution on type 2 diabetes incidence and mortality. We derived an exposure–response curve from the extracted relative risk estimates using the MR-BRT (meta-regression—Bayesian, regularised, trimmed) tool. The estimated curve was linked to ambient and household PM_2·5 exposures from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019, and estimates of the attributable burden (population attributable fractions and rates per 100 000 population of deaths and disability-adjusted life-years) for 204 countries from 1990 to 2019 were calculated. We also assessed the role of changes in exposure, population size, age, and type 2 diabetes incidence in the observed trend in PM_2·5-attributable type 2 diabetes burden. All estimates are presented with 95% uncertainty intervals. Findings: In 2019, approximately a fifth of the global burden of type 2 diabetes was attributable to PM_2·5 exposure, with an estimated 3·78 (95% uncertainty interval 2·68–4·83) deaths per 100 000 population and 167 (117–223) disability-adjusted life-years (DALYs) per 100 000 population. Approximately 13·4% (9·49–17·5) of deaths and 13·6% (9·73–17·9) of DALYs due to type 2 diabetes were contributed by ambient PM2·5, and 6·50% (4·22–9·53) of deaths and 5·92% (3·81–8·64) of DALYs by household air pollution. High burdens, in terms of numbers as well as rates, were estimated in Asia, sub-Saharan Africa, and South Am

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Author Correction: The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

npj biodiversity

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npj biodiversity 2024年第1期3卷 31页

作者： Ann M Mc Cartney Giulio Formenti Alice Mouton Diego De Panis Luísa S Marins Henrique G Leitão Genevieve Diedericks Joseph Kirangwa Marco Morselli Judit Salces-Ortiz Nuria Escudero Alessio Iannucci Chiara Natali Hannes Svardal Rosa Fernández Tim De Pooter Geert Joris Mojca Strazisar Jonathan M D Wood Katie E Herron Ole Seehausen Phillip C Watts Felix Shaw Robert P Davey Alice Minotto José M Fernández Astrid Böhne Carla Alegria Tyler Alioto Paulo C Alves Isabel R Amorim Jean-Marc Aury Niclas Backstrom Petr Baldrian Laima Baltrunaite Endre Barta Bertrand BedHom Caroline Belser Johannes Bergsten Laurie Bertrand Helena Bilandija Mahesh Binzer-Panchal Iliana Bista Mark Blaxter Paulo A V Borges Guilherme Borges Dias Mirte Bosse Tom Brown Rémy Bruggmann Elena Buena-Atienza Josephine Burgin Elena Buzan Alessia Cariani Nicolas Casadei Matteo Chiara Sergio Chozas Fedor Čiampor Angelica Crottini Corinne Cruaud Fernando Cruz Love Dalen Alessio De Biase Javier Del Campo Teo Delic Alice B Dennis Martijn F L Derks Maria Angela Diroma Mihajla Djan Simone Duprat Klara Eleftheriadi Philine G D Feulner Jean-François Flot Giobbe Forni Bruno Fosso Pascal Fournier Christine Fournier-Chambrillon Toni Gabaldon Shilpa Garg Carmela Gissi Luca Giupponi Jessica Gomez-Garrido Josefa González Miguel L Grilo Björn Grüning Thomas Guerin Nadege Guiglielmoni Marta Gut Marcel P Haesler Christoph Hahn Balint Halpern Peter W Harrison Julia Heintz Maris Hindrikson Jacob Höglund Kerstin Howe Graham M Hughes Benjamin Istace Mark J Cock Franc Janžekovič Zophonias O Jonsson Sagane Joye-Dind Janne J Koskimäki Boris Krystufek Justyna Kubacka Heiner Kuhl Szilvia Kusza Karine Labadie Meri Lähteenaro Henrik Lantz Anton Lavrinienko Lucas Leclère Ricardo Jorge Lopes Ole Madsen Ghislaine Magdelenat Giulia Magoga Tereza Manousaki Tapio Mappes Joao Pedro Marques Gemma I Martinez Redondo Florian Maumus Shane A McCarthy Hendrik-Jan Megens Jose Melo-Ferreira Sofia L Mendes Matteo Montagna Joao Moreno Mai-Britt Mosbech Mónica Moura Zuzana Musilova Eugene Myers Will J N Genomics Institute University of California Santa Cruz CA USA. anmmccar@ucsc.edu. The Vertebrate Genome Laboratory The Rockefeller University New York NY USA. Department of Biology University of Florence Sesto Fiorentino Italy. InBios-Conservation Genetics Laboratory University of Liege Liege Belgium. Leibniz Institut für Zoo und Wildtierforschung Berlin Germany. Berlin Center for Genomics in Biodiversity Research Berlin Germany. Department of Biology University of Antwerp Antwerp Belgium. Institute of Zoology University of Cologne Cologne Germany. Department of Chemistry Life Sciences and Environmental Sustainability University of Parma Parma Italy. Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra) Barcelona Spain. Naturalis Biodiversity Center Leiden The Netherlands. Neuromics Support Facility VIB Center for Molecular Neurology VIB Antwerp Belgium. Neuromics Support Facility Department of Biomedical Sciences University of Antwerp Antwerp Belgium. Tree of Life Wellcome Sanger Institute Hinxton Cambridge UK. School of Biology and Environmental Science University College Dublin Belfield Ireland. Aquatic Ecology & Evolution Institute of Ecology & Evolution University of Bern Bern Switzerland. Department of Fish Ecology & Evolution Eawag Kastanienbaum Switzerland. Department of Biological and Environmental Science University of Jyvaskyla Jyvaskyla Finland. The Earlham Institute Norwich Research Park Norwich UK. Digital Science London UK. Barcelona Supercomputing Center Spanish National Bioinformatics Institute ELIXIR Spain Getafe Spain. Leibniz Institute for the Analysis of Biodiversity Change Museum Koenig Bonn Bonn Germany. CE3C-Centre for Ecology Evolution and Environmental Changes & CHANGE-Global Change and Sustainability Institute Faculdade de Ciências Universidade de Lisboa Campo Grande Lisboa Portugal. Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain. Universitat de Barcelona (UB) Barcelona Spain. CIBIO C

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Erratum to: Methods for evaluating medical tests and biomarkers

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Diagnostic and prognostic research 2017年第1期1卷 11页

作者： Gowri Gopalakrishna Miranda Langendam Rob Scholten Patrick Bossuyt Mariska Leeflang Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Richard Riley Marie Westwood Jos Kleinen Gary Collins Hans Reitsma Karel Moons Antonia Zapf Annika Hoyer Katharina Kramer Oliver Kuss J Ensor J J Deeks E C Martin R D Riley Gerta Rücker Susanne Steinhauser Martin Schumacher Joie Ensor Kym Snell Brian Willis Thomas Debray Jon Deeks Lavinia Ferrante di Ruffano Sian Taylor-Phillips Chris Hyde Stuart A Taylor Gauraang Batnagar Lavinia Ferrante Di Ruffano Farah Seedat Aileen Clarke Sarah Byron Frances Nixon Rebecca Albrow Thomas Walker Carla Deakin Zhivko Zhelev Harriet Hunt Yaling Yang Lucy Abel James Buchanan Thomas Fanshawe Bethany Shinkins Laure Wynants Jan Verbakel Sabine Van Huffel Dirk Timmerman Ben Van Calster Aeliko Zwinderman Jason Oke Jack O'Sullivan Rafael Perera Brian Nicholson Hannah L Bromley Tracy E Roberts Adele Francis Denniis Petrie G Bruce Mann Kinga Malottki Holly Smith Lucinda Billingham Alice Sitch Oke Gerke Mie Holm-Vilstrup Eivind Antonsen Segtnan Ulrich Halekoh Poul Flemming Høilund-Carlsen Bernard G Francq Jac Dinnes Julie Parkes Walter Gregory Jenny Hewison Doug Altman William Rosenberg Peter Selby Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Anne Rutjes Johannes Reitsma Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Yvonne Vergouwe Romin Pajouheshnia Rolf Groenwold Karen Moons Linda Peelen Daan Nieboer Bavo De Cock Micael J Pencina Ewout W Steyerberg Jennifer Cooper Nick Parsons Chris Stinton Steve Smith Andy Dickens Rachel Jordan Alexandra Enocson David Fitzmaurice Peymane Adab Charles Boachie Gaj Vidmar Karoline Freeman Martin Connock Rachel Court Carl Moons Jessica Harris Andrew Mumford Zoe Plummer Kurtis Lee Barnaby Reeves Chris Rogers Veerle Verheyden Gianni D Angelini Gavin J Murphy Jeremy Huddy Melody Ni Katherine Good Graham Cooke 1Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 2Cochrane Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht Netherlands. 234Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 49Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 3Cochrane Dementia and Cognitive Improvement Group University of Oxford Oxford UK. 4EPPI-Centre Department of Social Science University College London London UK. 5Division of Health and Social Care Research King's College London London UK. 6College of Computer and Information Science Northeastern University Boston USA. 13University Hospitals Bristol NHS Foundation Trust School of Social and Community Medicine Bristol UK. 275Institute of Applied Health Research University of Birmingham Birmingham UK. 9Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands. 10School of Social and Community Medicine University of Bristol Bristol UK. 179Institute of Applied Health Research University of Birmingham Birmingham UK. 12Kleijnen Systematic Reviews Ltd York UK. 25Research Institute for Primary Care and Health Sciences Keele University Keele UK. 188Centre for Statistics in Medicine Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences University of Oxford Oxford UK. 191Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 237Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands. 18Department of Medical Statistics University Medical Center Göttingen Göttingen Germany. 19Institute for B

[This corrects the article DOI: 10.1186/s41512-016-0001-y.].

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Poster abstracts

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Sleep and Biological Rhythms 2016年第1期5卷 A1-A189页

作者： J. Ferrie M. Shipley F. Cappuccio E. Brunner M. Miller M. Kumari M. Marmot A. Coenen J. L. Castillo F. Araya G. Bustamante L. Montecino C. Torres S. Oporto J. Gronli E. Fiske R. Murison B. Bjorvatn E. Sorensen R. Ursin C. M. Portas S. Rajaraman A. Gribok N. Wesensten T. Balkin J. Reifman N. Dursunoglu S. Ozkurt S. Baser O. Delen S. Sarikaya P. Sadler P. Mitchell D. Françon M. Decobert B. Herve A. Richard G. Griebel P. Avenet B. Scatton G. L. Fur D. Eckert A. Jordan A. Wellman S. Smith A. Malhotra D. White D. Bruck I. Thomas A. Kritikos W. Oertel K. Stiasny-Kolster D. Garcia-Borreguero W. Poewe B. Hoegl R. Kohnen E. Schollmayer J. Keffel C. Trenkwalder A. Valle S. Roizenblatt F. Fregni P. Boggio S. Tufik K. Ward L. Robertson L. Palmer P. Eastwood D. Hillman J. Lee S. Mukherjee V. de Padova G. Barbato G. Ficca I. Zilli P. Salzarulo M. Veldi T. Hion V. Vasar M. Kull L. Nowak J. Davis Y. Latzer O. Tzischinsky S. Crowley M. Carskadon M. Anca-Herschkovitsch D. Frey J. Ortega C. Wiseman C. Farley K. Wright A. Campbell A. Neill K. Spiegel R. Leproult E. Tasali N. Scherberg E. van Cauter A. T. Noradina N. A. Karim I. Norlinah A. A. Raymond R. Sahathevan B. Hamidon E. Werth R. Poryazova R. Khatami C. Bassetti R. G. Beran L. Ainley G. Holand J. Duncan H. Kinney B. Davis B. Hood S. Frey C. Schmidt M. Hofstetter P. Peigneux C. Cajochen W.-P. Hu J.-D. Li C. Zhang L. Boehmer J. Siegel Q.-Y. Zhou Y. Sagawa H. Kondo T. Takemura H. Kanayama Y. Kaneko M. Sato T. Kanbayashi Y. Hishikawa T. Shimizu A. Viola L. James L. Schlangen D.-J. Dijk R. Andretic Y.-C. Kim K.-A. Han F. Jones R. Greenspan L. Sanford L. Yang X. Tang K. Dieter E. Uta H. Sven M. Richard N. Oyane S. Pallesen F. Holsten Y. Inoue M. Fujita N. Emura K. Kuroda N. Uchimura A. Johnston J. Astbury G. Kennedy K. Hoedlmoser M. Schabus T. Pecherstorfer S. Moser G. Gruber P. Anderer W. Klimesch N. Naidoo M. Ferber A. Pack D. Neu O. Mairesse G. Hoffmann A. Dris L. Lambrecht P. Linkowski P. Verbanck O. Le Bon N. Matsuura M. Yamao N. Adachi R. Aritomi Y. Komada H. Tanaka S. Shirak University College London London UK University College London London USA Warwick Medical School London UK Warwick Medical School Coventry USA Radboud University Nijmegen Nijmegen Netherlands Department of Neurology University of Chile Santiago Chile Neurology Service Hospital del Salvador Santiago Chile Family Health Center Juan Pablo II Santiago Chile Department of Biomedicine Section on Physiology Univeristy of Bergen Bergen Norway Department of Public Health and Primary Health Care Univeristy of Bergen Bergen Norway Department of Public Health and Primary Health Care University of Bergen Bergen Norway Norwegian Competence Center for Sleep Disorders Haukeland University Hospital Bergen Norway Department of Child and Adolescent Psychiatry Haukeland University Hospital Univeristy of Bergen Bergen Norway Department of Biomedicine University of Bergen Bergen Norway US Army Medical Research and Materiel Command Fort Detrick Frederick USA Walter Reed Army Institute of Research Silver Spring USA Department of Behavioral Biology Walter Reed Army Institute of Research Silver Spring USA Faculty Department of Pulmonology Pamukkale University Medical Denizli Turkey University of Ballarat Ballarat Australia Sanofi-Aventis Recherche et Developpement Paris France Brigham and Women’s Hospital Harvard Medical School Boston USA The University of Queensland Adelaide Australia School of Psychology University of Queensland Brisbane Australia The University of Queensland Brisbane Australia Victoria University Melbourne Australia Department of Psychology Victoria University Melbourne Australia School of Psychology Victoria University Melbourne Australia Philips-Universität Marburg Germany Philips-Universitaet-Marburg Marburg Germany Instituto de Investigaciones del Sueno Madrid Spain Universitätsklinik für Neurologie Innsbruck Austria Universitaetsklinik fuer Neurologie Innsbruck Austria IMEREM GmbH Nuernberg Germany Schwarz Pharma AG Monheim Germany

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