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

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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Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

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Nature communications 2017年第1期8卷 1414页

作者： M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Department of Internal Medicine Erasmus MC Rotterdam 3000 The Netherlands. Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA) Leiden 2593 The Netherlands. Department of Biostatistics Boston University School of Public Health Boston MA 02118 USA. Hebrew SeniorLife Institute for Aging Research Roslindale MA 02131 USA. Harvard Medical School Boston MA 02115 USA. Molecular and Integrative Physiological Sciences Program Harvard School of Public Health Boston MA 02115 USA. Program in Personalized and Genomic Medicine and Department of Medicine Division of Endocrinology Diabetes and Nutrition University of Maryland School of Medicine Baltimore MD 21201 USA. Broad Institute Cambridge MA 02142 USA. Sackler Faculty of Medicine Department of Anatomy and Anthropology Tel Aviv University Tel Aviv 6997801 Israel. Department of Twin Research and Genetic Epidemiology King's College London St Thomas' Campus London WC2R 2LS UK. Department of Epidemiology Erasmus MC Rotterdam 3000 The Netherlands. Department of Medical Genetics University of Lausanne Lausanne 1011 Switzerland. Swiss Institute of Bioinformatics Lausanne 1015 Switzerland. Centre Hospitalier Universitaire (CHUV) University Institute for Social and Preventive Medicine Lausanne 1010 Switzerland. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN 46202 USA. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge Biomedical Campus Cambridge CB2 OQQ UK. Institute of Epidemiology II Helmholtz Zentrum München - German Research Center for Environmental Health Neuherberg 85764 Germany. Icelandic Heart Association Kopavogur 201 Iceland. Faculty of Medicine University of Iceland Reykjavik 101 Iceland. deCODE Genetics Reykjavik 101 Iceland. Department of Internal Medicine Institute of Medicine Sahlgrenska Academy University of Gothenburg Gothenburg SE-405 30 Sweden. Dep

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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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BT-02FUNCTIONALLY-DEFINED THERAPEUTIC TARGETS IN DIFFUSE INTRINSIC PONTINE GLIOMA

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Neuro-Oncology 2015年第SUPPL_3期17卷 iii3-iii3页

作者： Grasso, Catherine S. Tang, Yujie Truffaux, Nathalene Berlow, Noah E. Liu, Lining Debily, Marie-Anne Quist, Michael J. Davis, Lara Huang, Elaine C. Woo, Pamelyn J. Ponnuswami, Anitha Chen, Spenser Johung, Tessa Sun, Wenchao Kogiso, Mari Du, Yuchen Lin, Qi Huang, Yulun Hutt-Cabezas, Marianne Warren, Katherine E. Le Dret, Ludivine Meltzer, Paul S. Mao, Hua Quezado, Martha van Vuurden, Dannis G. Abraham, Jinu Fouladi, Maryam Svalina, Matthew N. Wang, Nicholas Hawkins, Cynthia Raabe, Eric Hulleman, Esther Spellman, Paul T. Li, Xiao-Nan Keller, Charles Pal, Ranadip Grill, Jacques Monje, Michelle Center for Spatial Systems Biomedicine Department of Molecular and Medical Genetics Oregon Health & Science University Portland OR USA These authors contributed equally to this work Depts. of Neurology Neurosurgery and Pediatrics Stanford University Stanford CA USA Unité Mixte de Recherche du Centre National de la Recherche Scientifique 8203 Institut Gustave Roussy et Université Paris-Sud Villejuif France Electrical and Computer Engineering Texas Tech University Lubbock TX USA Université d'Evry-Val d'Essone Evry France Pediatric Cancer Biology Program Papé Family Pediatric Research Institute Dept. of Pediatrics Oregon Health & Science University Portland OR USA Children's Cancer Therapy Development Institute Fort Collins CO USA Laboratory of Molecular Neurooncology Texas Children's Cancer Center Baylor College of Medicine Houston TX USA Department of Neurosurgery The First Affiliated Hospital of Soochow Suzhou China Departments of Oncology and Pathology Johns Hopkins University Baltimore MD USA National Cancer Institute Bethesda MD USA Department of Pediatric Oncology Hematology and Neuro-Oncology Research Group Cancer Center Amsterdam VU University Medical Center Amsterdam The Netherlands Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Center Cincinnati OH USA Dept. of Paediatric Laboratory Medicine University of Toronto Scientist Labatt Brain Tumour Research Centre Hospital for Sick Children University of Toronto Toronto ON Canada Departement de Cancerologie de l'Enfant et de l'Adolescent Institut Gustave Roussy Université Paris-Sud Villejuif France

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Proceedings of the 8th Annual Conference on the science of Dissemination and Implementation : Washington, DC, USA. 14-15 December 2015

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Implementation science : IS 2016年第2期11 Suppl 2卷 100页

作者： Chambers, David Simpson, Lisa Hill-Briggs, Felicia Neta, Gila Vinson, Cynthia Beidas, Rinad Marcus, Steven Aarons, Gregory Hoagwood, Kimberly Schoenwald, Sonja Evans, Arthur Hurford, Matthew Rubin, Ronnie Hadley, Trevor Barg, Frances Walsh, Lucia Adams, Danielle Mandell, David Martin, Lindsey Mignogna, Joseph Mott, Juliette Hundt, Natalie Kauth, Michael Kunik, Mark Naik, Aanand Cully, Jeffrey McGuire, Alan White, Dominique Bartholomew, Tom McGrew, John Luther, Lauren Rollins, Angie Salyers, Michelle Cooper, Brittany Funaiole, Angie Richards, Julie Lee, Amy Lapham, Gwen Caldeiro, Ryan Lozano, Paula Gildred, Tory Achtmeyer, Carol Ludman, Evette Addis, Megan Marx, Larry Bradley, Katharine VanDeinse, Tonya Wilson, Amy Blank Stacey, Burgin Powell, Byron Bunger, Alicia Cuddeback, Gary Barnett, Miya Stadnick, Nicole Brookman-Frazee, Lauren Lau, Anna Dorsey, Shannon Pullmann, Michael Mitchell, Shannon Schwartz, Robert Kirk, Arethusa Dusek, Kristi Oros, Marla Hosler, Colleen Gryczynski, Jan Barbosa, Carolina Dunlap, Laura Lounsbury, David O’Grady, Kevin Brown, Barry Damschroder, Laura Waltz, Thomas Ritchie, Mona Atkins, David Imel, Zac E. Xiao, Bo Can, Doğan Georgiou, Panayiotis Narayanan, Shrikanth Berkel, Cady Gallo, Carlos Sandler, Irwin Brown, C. Hendricks Wolchik, Sharlene Mauricio, Anne Marie Mehrotra, Sanjay Chandurkar, Dharmendra Bora, Siddhartha Das, Arup Tripathi, Anand Saggurti, Niranjan Raj, Anita Hughes, Eric Jacobs, Brian Kirkendall, Eric Loeb, Danielle Trinkley, Katy Yang, Michael Sprowell, Andrew Nease, Donald Lyon, Aaron Lewis, Cara Boyd, Meredith Melvin, Abigail Nicodimos, Semret Liu, Freda Jungbluth, Nathanial Flynn, Allen Landis-Lewis, Zach Sales, Anne Baloh, Jure Ward, Marcia Zhu, Xi Bennett, Ian Unutzer, Jurgen Mao, Johnny Proctor, Enola Vredevoogd, Mindy Chan, Ya-Fen Williams, Nathaniel Green, Phillip Bernstein, Steven Rosner, June-Marie DeWitt, Michelle Tetrault, Jeanette Dziura, James Hsiao, Allen Sussman, Scott O’Connor, Patrick Toll, Benjamin Jones, Michael Gassaway, Julie Tobin, Jonathan Zatzic Division of Cancer Control and Population Sciences National Cancer Institute National Institutes of Health Rockville USA AcademyHealth Washington USA Department of Medicine and Welch Center for Prevention Epidemiology and Clinical Research Johns Hopkins Medical Institutions Baltimore USA Psychiatry University of Pennsylvania Philadelphia USA Family Medicine and Community Health University of Pennsylvania Philadelphia USA School of Social Policy and Practice University of Pennsylvania Philadelphia USA Psychiatry UC San Diego La Jolla USA Child & Adolescent Psychiatry The Child Study Center at NYU Langone Medical Center New York NY New York USA Psychiatry and Behavioral Sciences MUSC Charleston USA DBHIDS City of Philadelphia Philadelphia USA CBH City of Philadelphia Philadelphia USA Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia USA Health Services Research & Development Department of Veterans Affairs & Baylor College of Medicine Houston USA Treatment Core Department of Veterans Affairs Waco USA National Center for PTSD Executive Division Department of Veterans Affairs White River Junction USA HSR&D HSR&D Center for Health Information and Communication Roudebush VA Medical Center Indianapolis USA Psychology Indiana University Purdue University Indianapolis Indianapolis USA Department of Psychiatric Rehabilitation and Counseling Rutgers University Newark USA Health Services Research & Development Richard L. Roudebush VAMC Indianapolis USA IUPUI Department of Psychology ACT Center of Indiana Indianapolis USA Human Development Washington State University Pullman USA Prevention Science Washington State University Pullman USA Group Health Research Institute Group Health Seattle USA Behavioral Health Services Group Health Seattle USA Preventive Care Group Health Seattle USA Health Services Research & Development Primary and Specialty Medical Care Service VA Puget Sound Seattle USA School of Social Work Un

A1 Introduction to the 8th Annual Conference on the science of Dissemination and Implementation: Optimizing Personal and Population Health David Chambers, Lisa Simpson D1 Discussion forum: Population health D&I research Felicia Hill-Briggs D2 Discussion forum: Global health D&I research Gila Neta, Cynthia Vinson D3 Discussion forum: Precision medicine and D&I research David Chambers S1 Predictors of community therapists’ use of therapy techniques in a large public mental health system Rinad Beidas, Steven Marcus, Gregory Aarons, Kimberly Hoagwood, Sonja Schoenwald, Arthur Evans, Matthew Hurford, Ronnie Rubin, Trevor Hadley, Frances Barg, Lucia Walsh, Danielle Adams, David Mandell S2 Implementing brief cognitive behavioral therapy (CBT) in primary care: Clinicians' experiences from the field Lindsey Martin, Joseph Mignogna, Juliette Mott, Natalie Hundt, Michael Kauth, Mark Kunik, Aanand Naik, Jeffrey Cully S3 Clinician competence: Natural variation, factors affecting, and effect on patient outcomes Alan McGuire, Dominique White, Tom Bartholomew, John McGrew, Lauren Luther, Angie Rollins, Michelle Salyers S4 Exploring the multifaceted nature of sustainability in community-based prevention: A mixed-method approach Brittany Cooper, Angie Funaiole S5 Theory informed behavioral health integration in primary care: Mixed methods evaluation of the implementation of routine depression and alcohol screening and assessment Julie Richards, Amy Lee, Gwen Lapham, Ryan Caldeiro, Paula Lozano, Tory Gildred, Carol Achtmeyer, Evette Ludman, Megan Addis, Larry Marx, Katharine Bradley S6 Enhancing the evidence for specialty mental health probation through a hybrid efficacy and implementation study Tonya VanDeinse, Amy Blank Wilson, Burgin Stacey, Byron Powell, Alicia Bunger, Gary Cuddeback S7 Personalizing evidence-based child mental health care within a fiscally mandated policy reform Miya Barnett, Nicole Stadnick, Lauren Brookman-Frazee, Anna Lau S8 Leveraging an existing

关键词： Veteran Affair Motivational Interview Qualitative Comparative Analysis Community That Care Supplemental Nutrition Assistance program

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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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Modeling the breakage-fusion-bridge mechanism: Combinatorics and cancer genomics

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16th Annual International Conference on Research in Computational Molecular biology, RECOMB 2012

作者： Kinsella, Marcus Bafna, Vineet Bioinformatics and Systems Biology Program University of California San Diego San Diego CA 92093 United States Department of Computer Science and Engineering University of California San Diego San Diego CA 92093 United States

ISBN: (纸本)9783642296260

The breakage-fusion-bridge (BFB) mechanism was proposed over seven decades ago and is a source of genomic variability and gene amplification in cancer. Here we formally model and analyze the BFB mechanism, to our knowledge this first time this has been undertaken. We show that BFB can be modeled as successive inverted prefix duplications of a string. Using this model, we show that BFB can achieve a surprisingly broad range of amplification patterns. We find that a sequence of BFB operations can be found that nearly fits most patterns of copy number increases along a chromosome. We conclude that this limits the usefulness of methods like array CGH for detecting BFB and discuss other implications for understanding mechanisms of genomic instability. © 2012 Springer-Verlag Berlin Heidelberg.

关键词： Pattern matching

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PatternLab: From mass spectra to label-free differential shotgun proteomics

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Current Protocols in Bioinformatics 2012年第SUPPL.40期40卷

作者： Carvalho, Paulo C. Fischer, Juliana S.G. Xu, Tao Yates III, John R. Barbosa, Valmir C. Carlos Chagas Institute-Fiocruz Parańa Brazil Department of Cell Biology The Scripps Research Institute La Jolla CA United States Systems Engineering and Computer Science Program COPPE Federal University of Rio de Janeiro Brazil

PatternLab for proteomics is a self-contained computational environment for analyzing shotgun proteomic data. Recent improvements incorporate modules to facilitate the computational analysis, such as FastaDBXtractor for sequence database preparation and ProLuCID runner for simplifying and managing the protein identification search engine;modules for pushing the limits on proteomics standards, such as SEPro, which relies on a semi-labeled decoy approach for increasing confidence in filtering and organizing peptide spectrum matches;and modules with novel features, such as SEProQ for enabling labelfree quantitation by extracted ion chromatograms according to a distributed normalized ion abundance factor approach (dNIAF). Existing modules were also improved, such as the TFold module for pinpointing differentially expressed proteins. These new modules are integrated into the previously described arsenal of tools for further data analysis. Here we provide detailed instructions for operating and understanding them. © 2012 by John Wiley & Sons, Inc.

关键词： Dniaf filtering PSMs Protein identification Quantitative proteomics Semi-labeled decoy approach

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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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Modularity detection in protein-protein interaction networks

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BMC Research Notes 2011年第1期4卷 1-6页

作者： Narayanan, Tejaswini Gersten, Merril Subramaniam, Shankar Grama, Ananth Department of Electrical and Computer Engineering University of California San Diego United States Graduate Program in Bioinformatics and Systems Biology University of California San Diego United States Department of Bioengineering University of California San Diego United States Department of Computer Science Purdue University West Lafayette IN United States

Background: Many recent studies have investigated modularity in biological networks, and its role in functional and structural characterization of constituent biomolecules. A technique that has shown considerable promise in the domain of modularity detection is the Newman and Girvan (NG) algorithm, which relies on the number of shortest-paths across pairs of vertices in the network traversing a given edge, referred to as the betweenness of that edge. The edge with the highest betweenness is iteratively eliminated from the network, with the betweenness of the remaining edges recalculated in every iteration. This generates a complete dendrogram, from which modules are extracted by applying a quality metric called modularity denoted by Q. This exhaustive computation can be prohibitively expensive for large networks such as Protein-Protein Interaction Networks. In this paper, we present a novel optimization to the modularity detection algorithm, in terms of an efficient termination criterion based on a target edge betweenness value, using which the process of iterative edge removal may be terminated. Results: We validate the robustness of our approach by applying our algorithm on real-world protein-protein interaction networks of Yeast, *** and Drosophila, and demonstrate that our algorithm consistently has significant computational gains in terms of reduced runtime, when compared to the NG algorithm. Furthermore, our algorithm produces modules comparable to those from the NG algorithm, qualitatively and quantitatively. We illustrate this using comparison metrics such as module distribution, module membership cardinality, modularity Q, and Jaccard Similarity Coefficient. Conclusions: We have presented an optimized approach for efficient modularity detection in networks. The intuition driving our approach is the extraction of holistic measures of centrality from graphs, which are representative of inherent modular structure of the underlying network, and the applic

关键词： Biological Network Jaccard Index Input Network High Betweenness Jaccard Similarity Coefficient

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