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

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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Noise subtraction from KAGRA O3GK data using Independent Component Analysis

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Classical and Quantum Gravity 2023年第8期40卷 085015-085015页

作者： H Abe T Akutsu M Ando A Araya N Aritomi H Asada Y Aso S Bae Y Bae R Bajpai K Cannon Z Cao E Capocasa M Chan C Chen D Chen K Chen Y Chen C-Y Chiang Y-K Chu S Eguchi M Eisenmann Y Enomoto R Flaminio H K Fong Y Fujii Y Fujikawa Y Fujimoto I Fukunaga D Gao G-G Ge S Ha I P W Hadiputrawan S Haino W-B Han K Hasegawa K Hattori H Hayakawa K Hayama Y Himemoto N Hirata C Hirose T-C Ho B-H Hsieh H-F Hsieh C Hsiung H-Y Huang P Huang Y-C Huang Y-J Huang D C Y Hui S Ide K Inayoshi Y Inoue K Ito Y Itoh C Jeon H-B Jin K Jung P Jung K Kaihotsu T Kajita M Kakizaki M Kamiizumi N Kanda T Kato K Kawaguchi C Kim J Kim J C Kim Y-M Kim N Kimura T Kiyota Y Kobayashi K Kohri K Kokeyama A K H Kong N Koyama C Kozakai J Kume Y Kuromiya S Kuroyanagi K Kwak E Lee H W Lee R Lee M Leonardi K L Li P Li L C -C Lin C-Y Lin E T Lin F-K Lin F-L Lin H L Lin G C Liu L-W Luo M Ma’arif E Majorana Y Michimura N Mio O Miyakawa K Miyo S Miyoki Y Mori S Morisaki N Morisue Y Moriwaki K Nagano K Nakamura H Nakano M Nakano Y Nakayama T Narikawa L Naticchioni L Nguyen Quynh W-T Ni T Nishimoto A Nishizawa S Nozaki Y Obayashi W Ogaki J J Oh K Oh M Ohashi T Ohashi M Ohkawa H Ohta Y Okutani K Oohara S Oshino S Otabe K-C Pan A Parisi J Park F E Pe na Arellano S Saha Y Saito K Sakai T Sawada Y Sekiguchi L Shao Y Shikano H Shimizu K Shimode H Shinkai T Shishido A Shoda K Somiya I Song R Sugimoto J Suresh T Suzuki H Tagoshi H Takahashi R Takahashi S Takano H Takeda M Takeda K Tanaka T Tanaka S Tanioka A Taruya T Tomaru T Tomura L Trozzo T Tsang J-S Tsao S Tsuchida T Tsutsui D Tuyenbayev N Uchikata T Uchiyama A Ueda T Uehara K Ueno G Ueshima T Ushiba M H P M van Putten J Wang T Washimi C Wu H Wu T Yamada K Yamamoto T Yamamoto K Yamashita R Yamazaki Y Yang S Yeh J Yokoyama T Yokozawa T Yoshioka H Yuzurihara S Zeidler M Zhan H Zhang Y Zhao Z-H Zhu The KAGRA Collaboration Graduate School of Science Tokyo Institute of Technology Meguro-ku Tokyo 152-8551 Japan Gravitational Wave Science Project National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Department of Physics The University of Tokyo Bunkyo-ku Tokyo 113-0033 Japan Research Center for the Early Universe (RESCEU) The University of Tokyo Bunkyo-ku Tokyo 113-0033 Japan Earthquake Research Institute The University of Tokyo Bunkyo-ku Tokyo 113-0032 Japan Department of Mathematics and Physics Gravitational Wave Science Project Hirosaki University Hirosaki City Aomori 036-8561 Japan Kamioka Branch National Astronomical Observatory of Japan (NAOJ) Kamioka-cho Hida City Gifu 506-1205 Japan The Graduate University for Advanced Studies (SOKENDAI) Mitaka City Tokyo 181-8588 Japan Korea Institute of Science and Technology Information (KISTI) Yuseong-gu Daejeon 34141 Republic of Korea National Institute for Mathematical Sciences Yuseong-gu Daejeon 34047 Republic of Korea School of High Energy Accelerator Science The Graduate University for Advanced Studies (SOKENDAI) Tsukuba City Ibaraki 305-0801 Japan Department of Astronomy Beijing Normal University Beijing 100875 People’s Republic of China Department of Applied Physics Fukuoka University Jonan Fukuoka City Fukuoka 814-0180 Japan Department of Physics Tamkang University Danshui Dist. New Taipei City 25137 Taiwan Department of Physics and Institute of Astronomy National Tsing Hua University Hsinchu 30013 Taiwan Department of Physics Center for High Energy and High Field Physics National Central University Zhongli District Taoyuan City 32001 Taiwan Department of Physics National Tsing Hua University Hsinchu 30013 Taiwan Institute of Physics Academia Sinica Nankang Taipei 11529 Taiwan Univ. Grenoble Alpes Laboratoire d’Annecy de Physique des Particules (LAPP) Université Savoie M

During April 7–21 2020, KAGRA conducted its first scientific observation in conjunction with the GEO600 detector. The dominant noise sources during this run were found to be suspension control noise in the low-frequency range and acoustic noise in the mid-frequency range. In this study, we show that their contributions in the observational data can be reduced by a signal processing method called independent component analysis (ICA). The model of ICA is extended from that studied in the initial KAGRA data analysis to account for frequency dependence, while the linearity and stationarity of the coupling between the interferometer and the noise sources are still assumed. We identify optimal witness sensors in the application of ICA, leading to successful mitigation of these two dominant contributions. We also analyze the stability of the transfer functions for the entire two weeks of data to investigate the applicability of the proposed subtraction method in gravitational wave searches.

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Radiative Cooling of the Thermally Isolated System in KAGRA Gravitational Wave Telescope

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Journal of Physics: Conference Series 2021年第1期1857卷

作者： T. Akutsu M. Ando K. Arai Y. Arai S. Araki A. Araya N. Aritomi Y. Aso S.-W. Bae Y.-B. Bae L. Baiotti R. Bajpai M. A. Barton K. Cannon E. Capocasa M.-L. Chan C.-S. Chen K.-H. Chen Y.-R. Chen H.-Y. Chu Y.-K. Chu S. Eguchi Y. Enomoto R. Flaminio Y. Fujii M. Fukunaga M. Fukushima G.-G. Ge A. Hagiwara S. Haino K. Hasegawa H. Hayakawa K. Hayama Y. Himemoto Y. Hiranuma N. Hirata E. Hirose Z. Hong B.-H. Hsieh G.-Z. Huang P.-W. Huang Y.-J. Huang B. Ikenoue S. Imam K. Inayoshi Y. Inoue K. Ioka Y. Itoh K. Izumi K. Jung P. Jung T. Kajita M. Kamiizumi N. Kanda G.-W. Kang K. Kawaguchi N. Kawai T. Kawasaki C. Kim J. Kim W. Kim Y.-M. Kim N. Kimura N. Kita H. Kitazawa Y. Kojima K. Kokeyama K. Komori A. K. H. Kong K. Kotake C. Kozakai R. Kozu R. Kumar J. Kume C.-M. Kuo H.-S. Kuo S. Kuroyanagi K. Kusayanagi K. Kwak H.-K. Lee H.-W. Lee R.-K. Lee M. Leonardi C.-Y. Lin F.-L. Lin L. C.-C. Lin G.-C. Liu L.-W. Luo M. Marchio Y. Michimura N. Mio O. Miyakawa A. Miyamoto Y. Miyazaki K. Miyo S. Miyoki S. Morisaki Y. Moriwaki K. Nagano S. Nagano K. Nakamura H. Nakano M. Nakano R. Nakashima T. Narikawa R. Negishi W.-T. Ni A. Nishizawa Y. Obuchi W. Ogaki J. J. Oh S.-H. Oh M. Ohashi N. Ohishi M. Ohkawa K. Okutomi K. Oohara C.-P. Ooi S. Oshino K.-C. Pan H.-F. Pang J. Park F. E. Peiia Arellano I. Pinto N. Sago S. Saito Y. Saito K. Sakai Y. Sakai Y. Sakuno S. Sato T. Sato T. Sawada T. Sekiguchi Y. Sekiguchi S. Shibagaki R. Shimizu T. Shimoda K. Shimode H. Shinkai T. Shishido A. Shoda K. Somiya E. J. Son H. Sotani R. Sugimoto T. Suzuki H. Tagoshi H. Takahashi R. Takahashi A. Takamori S. Takano H. Takeda M. Takeda H. Tanaka K. Tanaka T. Tanaka S. Tanioka E. N. Tapia San Martin S. Telada T. Tomaru Y. Tomigami T. Tomura F. Travasso L. Trozzo T. T. L. Tsang K. Tsubono S. Tsuchida T. Tsuzuki D. Tuyenbayev N. Uchikata T. Uchiyama A. Ueda T. Uehara K. Ueno G. Ueshima F. Uraguchi T. Ushiba M. H. P. M. van Putten H. Vocca J. Wang C.-M. Wu H.-C. Wu S.-R. Wu W.-R. Xu T. Yamada K. Yamamoto T. Yamamoto K. Yokogawa J. Yokoyama T. Yokozawa T. Yoshioka H. Yuzurihar National Astronomical Observatory of Japan (NAOJ) 2-21-1 Osawa Mitaka-City Tokyo 181-8588 Japan Research Center for the Early Universe (RESCEU) The University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo 113-0033 Japan Department of Physics The University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo 113-0033 Japan Institute for Cosmic Ray Research (ICRR) The University of Tokyo 5-1-5 Kashiwa-no-Ha Kashiwa-City Chiba 277-8582Japan Accelerator Laboratory High Energy Accelerator Research Organization (KEK) 1-1 OhoTsukuba-City Ibaraki 305-0801 Japan Earthquake Research Institute The University of Tokyo 1-1-1Yayoi Bunkyo-ku Tokyo 113-0032Japan Kamioka Branch National Astronomical Observatory of Japan (NAOJ) 238 Higashi-Mozumi Kamioka-cho Hida-City Gifu Pref. Japan The Graduate University for Advanced Studies (SOKENDAI) 2-21-1 Osawa Mitaka-City Tokyo 181-8588 Japan Korea Institute of Science and Technology Information (KISTI) 245 Daehak-ro Yuseong-gu Daejeon 34141 South Korea National Institute for Mathematical Sciences 70 Yuseong-daero 1689 beon-gil Yuseong-gu Daejeon 34047 South Korea Graduate School of Science Osaka University 1-1 Machikaneyama-cho Toyonaka-City Osaka560-0043 Japan School of High Energy Accelerator Science The Graduate University for Advanced Studies (SOKENDAI) 1-1 Oho Tsukuba-City Ibaraki 305-0801 Japan Institute for Gravitational Research University of Glasgow Kelvin Building G12 8QQ UK Department of Applied Physics Fukuoka University Fukuoka Jonan Nanakuma 814-0180 Japan Department of Physics Tamkang university No.151 Yingzhuan Rd. Danshui Dist. New Taipei-City 25137 Taiwan Department of Physics the Center for High Energy and High Field Physics National Central University No. 300 Zhongda Road Zhongyi District Taiyuan-City 320 Taiwan Institute of Astronomy National Tsing Hua University No. 101 Section 2 Kuang-Fu Road Hsinchu 30013 Taiwan Department of Physics National Tsing Hua University No. 101 Section 2

Radiative cooling of the thermally isolated system is investigated in KAGRA gravitational wave telescope. KAGRA is a laser interferometer-based detector and main mirrors constituting optical cavities are cool down to 20K to reduce noises caused by the thermal fluctuation. The mirror is suspended with the multi-stage pendulum to isolate any vibration. Therefore, this mirror suspension system has few heat links to reduce vibration injection. Thus, this system is mainly cooled down with thermal radiation. In order to understand the process of radiative cooling of the mirror, we analyzed cooling curve based on mass and specific heat. As a result, it was newly found that a cryogenic part called 'cryogenic duct-shield' seems to have large contribution in the beginning of the mirror cooling. This finding will help to design new cooling system for the next generation cryogenic gravitational wave detector.

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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 power of genetic diversity in genome-wide association studies of lipids

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Nature 2023年第7965期618卷 E19-E20页

作者： Sarah E Graham Shoa L Clarke Kuan-Han H Wu Stavroula Kanoni Greg J M Zajac Shweta Ramdas Ida Surakka Ioanna Ntalla Sailaja Vedantam Thomas W Winkler Adam E Locke Eirini Marouli Mi Yeong Hwang Sohee Han Akira Narita Ananyo Choudhury Amy R Bentley Kenneth Ekoru Anurag Verma Bhavi Trivedi Hilary C Martin Karen A Hunt Qin Hui Derek Klarin Xiang Zhu Gudmar Thorleifsson Anna Helgadottir Daniel F Gudbjartsson Hilma Holm Isleifur Olafsson Masato Akiyama Saori Sakaue Chikashi Terao Masahiro Kanai Wei Zhou Ben M Brumpton Humaira Rasheed Sanni E Ruotsalainen Aki S Havulinna Yogasudha Veturi QiPing Feng Elisabeth A Rosenthal Todd Lingren Jennifer Allen Pacheco Sarah A Pendergrass Jeffrey Haessler Franco Giulianini Yuki Bradford Jason E Miller Archie Campbell Kuang Lin Iona Y Millwood George Hindy Asif Rasheed Jessica D Faul Wei Zhao David R Weir Constance Turman Hongyan Huang Mariaelisa Graff Anubha Mahajan Michael R Brown Weihua Zhang Ketian Yu Ellen M Schmidt Anita Pandit Stefan Gustafsson Xianyong Yin Jian'an Luan Jing-Hua Zhao Fumihiko Matsuda Hye-Mi Jang Kyungheon Yoon Carolina Medina-Gomez Achilleas Pitsillides Jouke Jan Hottenga Gonneke Willemsen Andrew R Wood Yingji Ji Zishan Gao Simon Haworth Ruth E Mitchell Jin Fang Chai Mette Aadahl Jie Yao Ani Manichaikul Helen R Warren Julia Ramirez Jette Bork-Jensen Line L Kårhus Anuj Goel Maria Sabater-Lleal Raymond Noordam Carlo Sidore Edoardo Fiorillo Aaron F McDaid Pedro Marques-Vidal Matthias Wielscher Stella Trompet Naveed Sattar Line T Møllehave Betina H Thuesen Matthias Munz Lingyao Zeng Jianfeng Huang Bin Yang Alaitz Poveda Azra Kurbasic Claudia Lamina Lukas Forer Markus Scholz Tessel E Galesloot Jonathan P Bradfield E Warwick Daw Joseph M Zmuda Jonathan S Mitchell Christian Fuchsberger Henry Christensen Jennifer A Brody Mary F Feitosa Mary K Wojczynski Michael Preuss Massimo Mangino Paraskevi Christofidou Niek Verweij Jan W Benjamins Jorgen Engmann Rachel L Kember Roderick C Slieker Ken Sin Lo Nuno R Zilhao Phuong Le Marcus E Kleber Graciela E Delgado Shaofeng Huo Dai Department of Internal Medicine Division of Cardiology University of Michigan Ann Arbor MI USA. VA Palo Alto Health Care System Palo Alto CA USA. Department of Medicine Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Department of Biostatistics and Center for Statistics Genetics University of Michigan Ann Arbor MI USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. Endocrinology Boston Children's Hospital Boston MA USA. Medical and Population Genetics Broad Institute Cambridge MA USA. Department of Genetic Epidemiology University of Regensburg Regensburg Germany. McDonnell Genome Institute and Department of Medicine Washington University St Louis MO USA. Department of Precision Medicine Division of Genome Science National Institute of Health Cheongju-si South Korea. Tohoku Medical Megabank Organization Tohoku University Sendai Japan. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa. Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Wellcome Sanger Institute Hinxton UK. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Atlanta VA Health Care System Decatur GA USA. Malcolm Randall VA Medical Center Gainesville FL USA. Division of Vascular Sur

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