102 research outputs found
Can social dancing prevent falls in older adults? a protocol of the Dance, Aging, Cognition,Economics (DAnCE) fall prevention randomised controlled trial
- Author
- A Federici
- AF Kramer
- AH Briggs
- AL Stewart
- C Bradley
- C Coupland
- C Sherrington
- C Sherrington
- Canadian Fitness and lifestyle Research Institute
- Catherine Sherrington
- Centre for Health Advancement and Centre for Epidemiology and Research
- Chris Rissel
- CM Young
- D Merom
- D Merom
- D Schoene
- DA Ganz
- Dafna Merom
- E Cerin
- E Hui
- E Miller
- Erin Mathieu
- Ester Cerin
- G Sofianidis
- GL Kempen
- HW Wallmann
- I Grewal
- J Coast
- J Hardin
- J Lubben
- J Verghese
- J Verghese
- J Zhang
- JA Blumenthal
- JC Davis
- JE Brazier
- JI Sheikh
- JM Guralnik
- JO Judge
- Judy M Simpson
- JWL Keogh
- K Delbaere
- Kaarin J Anstey
- KJ Anstey
- L Fratiglioni
- L Lundin-Olsson
- LD Gillespie
- M Connor
- M Drummond
- M Jones
- MC Robertson
- MD Lezak
- ME Nelson
- ME Tinetti
- MF Folstein
- NA Ecclestone
- NM van Schoor
- P McKinley
- Panel on Prevention of Falls in Older Persons American Geriatrics Society and British Geriatrics Society
- PM Wayne
- R Shigematsu
- R Song
- Rachael L Morton
- RC Cumming
- RC Cumming
- Robert Cumming
- S Eyigor
- S Hollis
- SE Lamb
- SR Lord
- SR Lord
- SR Lord
- Stephen R Lord
- TN Tombaugh
- TS Gavin
- WL Watson
- World Health Organization
- Z Bremer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2013
- Field of study
Background: Falls are one of the most common health problems among older people and pose a major economic burden on health care systems. Exercise is an accepted stand-alone fall prevention strategy particularly if it is balance training or regular participation in Tai chi. Dance shares the ‘holistic’ approach of practices such as Tai chi. It is a complex sensorimotor rhythmic activity integrating multiple physical, cognitive and social elements. Small-scale randomised controlled trials have indicated that diverse dance styles can improve measures of balance and mobility in older people, but none of these studies has examined the effect of dance on falls or cognition. This study aims to determine whether participation in social dancing: i) reduces the number of falls; and ii) improves cognitive functions associated with fall risk in older people. Methods/design: A single-blind, cluster randomised controlled trial of 12 months duration will be conducted. Approximately 450 participants will be recruited from 24 self-care retirement villages that house at least 60 residents each in Sydney, Australia. Village residents without cognitive impairment and obtain medical clearance will be eligible. After comprehensive baseline measurements including physiological and cognitive tests and self-completed questionnaires, villages will be randomised to intervention sites (ballroom or folk dance) or to a wait-listed control using a computer randomisation method that minimises imbalances between villages based on two baseline fall risk measures. Main outcome measures are falls, prospectively measured, and the Trail Making cognitive function test. Cost-effectiveness and cost-utility analyses will be performed. Discussion: This study offers a novel approach to balance training for older people. As a community-based approach to fall prevention, dance offers older people an opportunity for greater social engagement, thereby making a major contribution to healthy ageing. Providing diversity in exercise programs targeting seniors recognises the heterogeneity of multicultural populations and may further increase the number of taking part in exercise
Proposed Standards for Medical Education Submissions to the Journal of General Internal Medicine
- Author
- A Fink
- Adina L. Kalet
- American Educational Research Association
- American Psychological Association
- Anderson Spickard
- B Thompson
- CE Glassick
- D Kirkpatrick
- D Moher
- D Prideaux
- D Reed
- DA Cook
- DA Cook
- DA Cook
- DA Cook
- DA Cook
- DA Cook
- DA Davis
- DA Reed
- DA Reed
- David A. Cook
- DC Des Jarlais
- DF Stroup
- Diane B. Wayne
- E von Elm
- Education Group for Guidelines on Evaluation
- EG Price
- EL Boyer
- FM Chen
- FM Wolf
- G Bordage
- G Bordage
- G Bordage
- G Bordage
- G Bordage
- G Regehr
- G Regehr
- GR Norman
- I Boutron
- I Harris
- J Morrison
- JA Colliver
- JA Shea
- JA Shea
- JB Prystowsky
- Jennifer R. Kogan
- JL Green
- JM Bland
- JM Tomkowiak
- JR Fraenkel
- JS Ross
- Judith L. Bowen
- K Malterud
- KJ Devers
- L Côté
- L Wilkinson
- LJ Cronbach
- LL Veet
- M Albert
- M Hojat
- M Wilkes
- Martha S. Gerrity
- MB Miles
- MK Giacomini
- MK Giacomini
- MS Gerrity
- MT Kane
- MT Kane
- PA Carney
- R Elliott
- RB Haynes
- RF DeVellis
- RS Schwartz
- SJ Crandall
- SJ Lord
- SM Downing
- SM Downing
- SM Downing
- SM Downing
- SM Mojon-Azzi
- TD Cook
- TJ Beckman
- TJ Beckman
- TS Inui
- WC McGaghie
- Publication venue
- Springer-Verlag
- Publication date
- 01/01/2008
- Field of study
To help authors design rigorous studies and prepare clear and informative manuscripts, improve the transparency of editorial decisions, and raise the bar on educational scholarship, the Deputy Editors of the Journal of General Internal Medicine articulate standards for medical education submissions to the Journal. General standards include: (1) quality questions, (2) quality methods to match the questions, (3) insightful interpretation of findings, (4) transparent, unbiased reporting, and (5) attention to human subjects’ protection and ethical research conduct. Additional standards for specific study types are described. We hope these proposed standards will generate discussion that will foster their continued evolution
Long-baseline neutrino oscillation physics potential of the DUNE experiment
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- Abi B.
- Acciarri R.
- Acero M. A.
- Adamov G.
- Adams D.
- Adinolfi M.
- Ahmad Z.
- Ahmed J.
- Alba J. L. Bazo
- Alion T.
- Alonso M. J. Rodriguez
- Alt C.
- Anderson J.
- Andreopoulos C.
- Andrews M. P.
- Andrianala F.
- Andringa S.
- Ankowski A.
- Antonova M.
- Antusch S.
- Aranda-Fernandez A.
- Ariga A.
- Arnold L. O.
- Arroyave M. A.
- Asaadi J.
- Aurisano A.
- Aushev V.
- Autiero D.
- Azfar F.
- Back H.
- Back J. J.
- Backhouse C.
- Baesso P.
- Bagby L.
- Bajou R.
- Balasubramanian S.
- Baldi P.
- Bambah B.
- Barao F.
- Barenboim G.
- Barker G. J.
- Barkhouse Wayne A.
- Barnes C.
- Barr G.
- Barros N.
- Barrow J. L.
- Bashyal A.
- Basque V.
- Bay F.
- Beacom J. F.
- Bechetoille E.
- Behera B.
- Bellantoni L.
- Bellettini G.
- Bellini V.
- Beltramello O.
- Belver D.
- Benekos N.
- Berger J.
- Berkman S.
- Bermeo L. V. Gomez
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- Bolton T.
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- Caicedo D. A. Martinez
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- Young Tim
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- Zuklin J.
- Zutshi V.
- Zwaska R.
- Publication venue
- UND Scholarly Commons
- Publication date
- 22/10/2020
- Field of study
The sensitivity of the Deep Underground Neutrino Experiment (DUNE) to neutrino oscillation is determined, based on a full simulation, reconstruction, and event selection of the far detector and a full simulation and parameterized analysis of the near detector. Detailed uncertainties due to the flux prediction, neutrino interaction model, and detector effects are included. DUNE will resolve the neutrino mass ordering to a precision of 5σ, for all ΑCP values, after 2 years of running with the nominal detector design and beam configuration. It has the potential to observe charge-parity violation in the neutrino sector to a precision of 3σ (5σ) after an exposure of 5 (10) years, for 50% of all ΑCP values. It will also make precise measurements of other parameters governing long-baseline neutrino oscillation, and after an exposure of 15 years will achieve a similar sensitivity to sin22θ13 to current reactor experiments
First results on ProtoDUNE-SP liquid argon time projection chamber performance from a beam test at the CERN Neutrino Platform
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- Young Tim
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- Yu Z. Y.
- Zaki R.
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- Zambelli L.
- Zamorano B.
- Zani A.
- Zazueta L.
- Zeller G. P.
- Zennamo J.
- Zetina L. M. Montano
- Zeug K.
- Zhang C.
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- Zhu G.
- Zimmerman E. D.
- Zito M.
- Zucchelli S.
- Zuklin J.
- Zutshi V.
- Zwaska R.
- Publication venue
- UND Scholarly Commons
- Publication date
- 03/12/2020
- Field of study
The ProtoDUNE-SP detector is a single-phase liquid argon time projection chamber with an active volume of 7.2× 6.1× 7.0 m3. It is installed at the CERN Neutrino Platform in a specially-constructed beam that delivers charged pions, kaons, protons, muons and electrons with momenta in the range 0.3 GeV/c to 7 GeV/c. Beam line instrumentation provides accurate momentum measurements and particle identification. The ProtoDUNE-SP detector is a prototype for the first far detector module of the Deep Underground Neutrino Experiment, and it incorporates full-size components as designed for that module. This paper describes the beam line, the time projection chamber, the photon detectors, the cosmic-ray tagger, the signal processing and particle reconstruction. It presents the first results on ProtoDUNE-SP\u27s performance, including noise and gain measurements, dE/dx calibration for muons, protons, pions and electrons, drift electron lifetime measurements, and photon detector noise, signal sensitivity and time resolution measurements. The measured values meet or exceed the specifications for the DUNE far detector, in several cases by large margins. ProtoDUNE-SP\u27s successful operation starting in 2018 and its production of large samples of high-quality data demonstrate the effectiveness of the single-phase far detector design
Prospects for beyond the Standard Model physics searches at the Deep Underground Neutrino Experiment
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- Vagins M. R.
- Vahle P.
- Valdiviesso G. A.
- Valencia E.
- Vallari Z.
- Valle J. W. F.
- Vallecorsa S.
- Varanini F.
- Vargas D.
- Varner G.
- Vasel J.
- Vasseur G.
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- Ventura S.
- Verdugo A.
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- Vermeulen M. A.
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- Vilela C.
- Villanueva A. Cervera
- Viren B.
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- Waldron A. V.
- Wallbank M.
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- Warburton K.
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- Yonehara K.
- Young Tim
- Yu B.
- Yu J.
- Zaki R.
- Zalesak J.
- Zambelli L.
- Zamorano B.
- Zani A.
- Zazueta L.
- Zeller G. P.
- Zennamo J.
- Zetina L. M. Montano
- Zeug K.
- Zhang C.
- Zhao M.
- Zhao Y.
- Zhivun E.
- Zhu G.
- Zimmerman E. D.
- Zito M.
- Zucchelli S.
- Zuklin J.
- Zutshi V.
- Zwaska R.
- Publication venue
- UND Scholarly Commons
- Publication date
- 16/04/2021
- Field of study
The Deep Underground Neutrino Experiment (DUNE) will be a powerful tool for a variety of physics topics. The high-intensity proton beams provide a large neutrino flux, sampled by a near detector system consisting of a combination of capable precision detectors, and by the massive far detector system located deep underground. This configuration sets up DUNE as a machine for discovery, as it enables opportunities not only to perform precision neutrino measurements that may uncover deviations from the present three-flavor mixing paradigm, but also to discover new particles and unveil new interactions and symmetries beyond those predicted in the Standard Model (SM). Of the many potential beyond the Standard Model (BSM) topics DUNE will probe, this paper presents a selection of studies quantifying DUNE’s sensitivities to sterile neutrino mixing, heavy neutral leptons, non-standard interactions, CPT symmetry violation, Lorentz invariance violation, neutrino trident production, dark matter from both beam induced and cosmogenic sources, baryon number violation, and other new physics topics that complement those at high-energy colliders and significantly extend the present reach
Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study
- Author
- A Bulfone
- A del Pozo
- A Grifa
- A Mencía
- A Schlicker
- A Tlili
- A Tulipano
- A Wang
- AK Lalwani
- Antonella Vaccina
- Antonio Giordano
- B Linghu
- C Kubisch
- C Pesquita
- Claudia Santoro
- D Lin
- D Maglott
- D Weil
- DP Kelsell
- E Kalay
- E van Wijk
- E Verpy
- E Verpy
- ED Lynch
- EH Stover
- ER Wilcox
- F Donaudy
- F Donaudy
- FM Couto
- G Li
- Gaetano Scioscia
- GB Collin
- Giancarlo Tria
- H Jin
- H Shahin
- H Wu
- H Yu
- HS Scott
- I del Castillo
- I Schrijver
- I Zwaenepoel
- IN Bespalova
- J Cheng
- J Jiang
- JH Xia
- JL Sevilla
- JM Bork
- JM Schultz
- JM Schultz
- JZZ Wang
- K Kurima
- K Verhoeven
- L Tranebjaerg
- L Van Laer
- LM Peters
- M Ansar
- M Ashburner
- M Piccini
- M Zhu
- Matteo Accetturo
- MI Shabbir
- NG Robertson
- O Bodenreider
- O Vahava
- P Mburu
- P Resnik
- P Wangemann
- Pietro Leo
- PW Lord
- R Ficarella
- R Othman
- RM Riensche
- RW Collin
- S Abe
- S Abe
- S Delmaghani
- S Melchionda
- S Modamio-Høybjør
- S Naz
- S Naz
- S Riazuddin
- S Riazuddin
- S Wayne
- S Yasunaga
- Simone Battagliero
- SY Khan
- T Walsh
- T Yang
- Teresa M. Creanza
- TL Young
- V Karamatic Crew
- Vladimir B. Bajic
- WT McGuirt
- X Liu
- X Wu
- XC Li
- XM Ouyang
- XZ Liu
- XZ Liu
- YJ De Kok
- Z Lei
- ZM Ahmed
- ZM Ahmed
- ZM Ahmed
- Publication venue
- Public Library of Science
- Publication date
- Field of study
At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL), but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score () that relies on the assumption that functionally related genes might contribute to the same (disease) phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value that the former pair-wise is greater than the latter, justifying a prioritization strategy based on the functional similarity of candidate genes respect to the disease gene set. A cross-validation test measured to what extent the ranking for NSHL is different from a random ordering: adding 15% of the disease genes to the candidate gene set, the ranking of the disease genes in the first eight positions resulted statistically different from a hypergeometric distribution with a p-value and a power. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations
Volume I. Introduction to DUNE
- Author
- Abi B.
- Acciarri R.
- Acero M.A.
- Adamov G.
- Adams D.
- Adinolfi M.
- Ahmad Z.
- Ahmed J.
- Alba J. Bazo
- Alion T.
- Almeida R.M. De
- Alonso M. Rodriguez
- Alt C.
- Anderson J.
- Andreopoulos C.
- Andrews M.
- Andrianala F.
- Andringa S.
- Ankowski A.
- Antonova M.
- Antusch S.
- Aranda-Fernandez A.
- Ariga A.
- Arnold L.O.
- Arroyave M.A.
- Asaadi J.
- Astiz I.L. De Icaza
- Aurisano A.
- Aushev V.
- Autiero D.
- Azfar F.
- Back H.
- Back J.J.
- Backhouse C.
- Baesso P.
- Bagby L.
- Bajou R.
- Balasubramanian S.
- Baldi P.
- Bambah B.
- Barao F.
- Barenboim G.
- Barker G.
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- Barrow J.L.
- Bashyal A.
- Basque V.
- Bay F.
- Beacom J.F.
- Bechetoille E.
- Behera B.
- Bellantoni L.
- Bellettini G.
- Bellini V.
- Beltramello O.
- Belver D.
- Benekos N.
- Berg R. Van
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- Bermeo L. Gomez
- Bernardini P.
- Berner R.M.
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- Bertolucci S.
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- Bhattacharjee M.
- Bhuyan B.
- Biagi S.
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- Bitadze A.
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- Brianne E.
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- Budd H.
- Bueno L. Molina
- Caicedo D.A. Martinez
- Caiulo D.
- Calafiura P.
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- Calin M.
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- Smith A.
- Smith A.
- Smith E.
- Smith P.
- Smolik J.
- Smy M.
- Snopok P.
- Sobel H.
- Soderberg M.
- Solomey N.
- Solovov V.
- Sondheim W.E.
- Sorel M.
- Soto-Oton J.
- Sousa A.
- Soustruznik K.
- Spagliardi F.
- Spanu M.
- Spitz J.
- Spooner N.J.
- Spurgeon K.
- Staley R.
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- Strauss T.
- Striganov S.
- Stuart A.
- Summers D.
- Surdo A.
- Susic V.
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- Sutera C.
- Svoboda R.
- Szczerbinska B.
- Szelc A.
- Söldner-Rembold S.
- Talaga R.
- Tanaka H.
- Tapper A.
- Tariq S.
- Tatar E.
- Tayloe R.
- Teklu A.
- Tenti M.
- Terao K.
- Ternes C.A.
- Terranova F.
- Terrazas I. Caro
- Testera G.
- Thea A.
- Thompson J.L.
- Thorn C.
- Timm S.
- Tonazzo A.
- Torti M.
- Tortola M.
- Tortorici F.
- Totani D.
- Toups M.
- Touramanis C.
- Trevor J.
- Trzaska W.H.
- Tsai Y.T.
- Tsamalaidze Z.
- Tsang K.
- Tsverava N.
- Tufanli S.
- Tull C.
- Tyley E.
- Tzanov M.
- Uchida M.A.
- Urheim J.
- Usher T.
- Vagins M.
- Vahle P.
- Valdiviesso G.
- Valencia E.
- Vallari Z.
- Valle J.W.
- Vallecorsa S.
- Varanini F.
- Vargas D.
- Varner G.
- Vasel J.
- Vasseur G.
- Vaziri K.
- Ventura S.
- Verdugo A.
- Vergani S.
- Vermeulen M.A.
- Verzocchi M.
- Vignoli C.
- Vilela C.
- Villanueva A. Cervera
- Viren B.
- Vrba T.
- Vries J. De
- Wachala T.
- Waldron A.V.
- Wallbank M.
- Wang H.
- Wang J.
- Wang Y.
- Wang Y.
- Warburton K.
- Warner D.
- Wascko M.
- Waters D.
- Watson A.
- Weatherly P.
- Weber A.
- Weber M.
- Wei H.
- Weinstein A.
- Wenman D.
- Wetstein M.
- While M.R.
- White A.
- Whitehead L.H.
- Whittington D.
- Wilking M.J.
- Wilkinson C.
- Williams Z.
- Wilson F.
- Wilson R.J.
- Wolcott J.
- Wongjirad T.
- Wood K.
- Wood L.
- Worcester E.
- Worcester M.
- Wret C.
- Wu W.
- Wu W.
- Xiao Y.
- Yang G.
- Yang T.
- Yershov N.
- Yonehara K.
- Young Tim
- Yu B.
- Yu J.
- Zalesak J.
- Zambelli L.
- Zamorano B.
- Zani A.
- Zazueta L.
- Zeller G.
- Zennamo J.
- Zetina L.M. Montano
- Zeug K.
- Zhang C.
- Zhao M.
- Zhivun E.
- Zhu G.
- Zimmerman E.D.
- Zito M.
- Zucchelli S.
- Zuklin J.
- Zutshi V.
- Zwaska R.
- Publication venue
- UND Scholarly Commons
- Publication date
- 01/08/2020
- Field of study
The preponderance of matter over antimatter in the early universe, the dynamics of the supernovae that produced the heavy elements necessary for life, and whether protons eventually decay—these mysteries at the forefront of particle physics and astrophysics are key to understanding the early evolution of our universe, its current state, and its eventual fate. The Deep Underground Neutrino Experiment (DUNE) is an international world-class experiment dedicated to addressing these questions as it searches for leptonic charge-parity symmetry violation, stands ready to capture supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector technical design report (TDR) describes the DUNE physics program and the technical designs of the single- and dual-phase DUNE liquid argon TPC far detector modules. This TDR is intended to justify the technical choices for the far detector that flow down from the high-level physics goals through requirements at all levels of the Project. Volume I contains an executive summary that introduces the DUNE science program, the far detector and the strategy for its modular designs, and the organization and management of the Project. The remainder of Volume I provides more detail on the science program that drives the choice of detector technologies and on the technologies themselves. It also introduces the designs for the DUNE near detector and the DUNE computing model, for which DUNE is planning design reports. Volume II of this TDR describes DUNE\u27s physics program in detail. Volume III describes the technical coordination required for the far detector design, construction, installation, and integration, and its organizational structure. Volume IV describes the single-phase far detector technology. A planned Volume V will describe the dual-phase technology
A stochastic multidimensional scaling procedure for the spatial representation of three-mode, three-way pick any/ J data
- Author
- A. Christoffersson
- A. Gifi
- B. Muthén
- C. H. Coombs
- D. J. Bartholomew
- D. M. Himmelblau
- D. McFadden
- D. R. Cox
- D. R. Lehmann
- D. W. Bishop
- E. B. Anderson
- F. M. Lord
- G. Soete De
- G. Soete De
- H. Akaike
- H. Bozdogan
- J. A. Nelder
- J. B. Kruskal
- J. D. Carroll
- J. D. Carroll
- J. F. Engel
- J. H. Levine
- J. Hornik
- J. Leeuw de
- K. E. Miller
- Kamel Jedidi
- L. Lebart
- M. B. Wilk
- M. J. D. Powell
- M. J. Greenacre
- P. E. Gill
- P. E. Green
- P. H. Sneath
- P. R. Dickson
- R. D. Bock
- R. G. Sandell
- R. W. Belk
- R. W. Belk
- S. Addelman
- S. Nishisato
- W. J. Heiser
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- W. S. DeSarbo
- Wayne S. DeSarbo
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1991
- Field of study
This paper presents a new stochastic multidimensional scaling procedure for the analysis of three-mode, three-way pick any/ J data. The method provides either a vector or ideal-point model to represent the structure in such data, as well as “floating” model specifications (e.g., different vectors or ideal points for different choice settings), and various reparameterization options that allow the coordinates of ideal points, vectors, or stimuli to be functions of specified background variables. A maximum likelihood procedure is utilized to estimate a joint space of row and column objects, as well as a set of weights depicting the third mode of the data. An algorithm using a conjugate gradient method with automatic restarts is developed to estimate the parameters of the models. A series of Monte Carlo analyses are carried out to investigate the performance of the algorithm under diverse data and model specification conditions, examine the statistical properties of the associated test statistic, and test the robustness of the procedure to departures from the independence assumptions. Finally, a consumer psychology application assessing the impact of situational influences on consumers' choice behavior is discussed.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/45749/1/11336_2005_Article_BF02294486.pd
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- Author
- Abner Erin
- Adams Hieab H
- Adams Perrie M.
- Aguilar Miquel
- Ahmad Shahzad
- Al-Chalabi Ammar
- Albert Marilyn S.
- Albin Roger L.
- Allen Mariet
- Alvarez Victoria
- Amin Najaf
- Amouyel Philippe
- Apostolova Liana G.
- Arcaro Marina
- Arnold Steven E.
- Aspelund Thor
- Asthana Sanjay
- Atwood Craig S.
- Bacq Delphine
- Badarinarayan Nandini
- Baldwin Clinton T.
- Barber Imelda S.
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Beach Thomas G.
- Becker James T.
- Beecham Gary W.
- Beekly Duane
- Behrens Timothy W.
- Beiser Alexa S.
- Bellenguez Céline
- Benito Yoland Aladro
- Bennett David A.
- Berr Claudine
- Bigio Eileen H.
- Bird Thomas D.
- Bis Joshua C.
- Blacker Deborah
- Blesa Rafael
- Boada Merce
- Boccardi Virginia
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Bonuccelli Ubaldo
- Bosco Paolo
- Bossù Paola
- Bowen James D.
- Boxer Adam
- Braae Anne
- Braddel Amy
- Bras Jose
- Brayne Carol
- Brice Alexis
- Brody Jennifer A
- Brookes Keeley
- Brown Kristelle
- Brundin Rosemarie
- Bruni Amalia Cecilia
- Bullido María J.
- Burgess Jeremy D.
- Burke James R.
- Burns Jeffrey M.
- Buxbaum Joseph D.
- Caffarra Paolo
- Cairns Nigel J.
- Caltagirone Carlo
- Campion Dominique
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Chris S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carrasquillo Minerva M.
- Carrell David
- Carroll Steven L.
- Cecchetti Roberta
- Chakrabarty Paramita
- Chapman Jade
- Chen Yuning
- Choi Seung-Hoan
- Chouraki Vincent
- Chui Helena C.
- Ciaramella Antonio
- Clarimón Jordi
- Clark David G.
- Collinge John
- Combarros Onofre
- Concari Letizia
- Corcoran Chris
- Coto Eliecer
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Cruchaga Carlos
- Cupidi Chiara
- Cupples L Adrienne
- Daniele Antonio
- Daniilidou Makrina
- Dartigues Jean-François
- De Deyn Peter P.
- De Jager Philip L
- Decarli Charles
- Deleuze Jean-François
- Denning Nicola
- Derbois Céline
- Dermecourt Vincent
- Destefano Anita L.
- Diaz Carolina Ceballos
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W
- Dombroski Beth
- Doody Rachelle S.
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Dulary Cécile
- Dunstan Melanie
- Dupuis Josée
- Eiriksdottir Gudny
- Emilsson Valur
- Engelborghs Sebastien
- Epelbaum Jacques
- Ertekin-Taner Nilufer
- Escott-Price Valentina
- Evans Denis A.
- Faber Kelley M.
- Fairchild Thomas J.
- Fairén Mònica Díez
- Fallon Kenneth B.
- Fardo David W.
- Farlow Martin R.
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernadez Carmen Muñoz
- Ferris Steven
- Fievet Nathalie
- Fitzpatrick Annette L.
- Fornage Myriam
- Foroud Tatiana M.
- Forsell Charlotte
- Forstner Andreas J.
- Fortea Juan
- Fox Nick C.
- Frank-García Ana
- Fratiglioni Laura
- Frosch Matthew P.
- Funk Cory C.
- Galasko Douglas R.
- Galimberti Daniela
- Gallo Maura
- Garcia Florentino Sanchez
- Garcia Melissa E.
- Garzia Fabienne
- Gearing Marla
- Gerrish Amy
- Geschwind Daniel H.
- Ghetti Bernardino
- Giedraitis Vilmantas
- Giegling Ina
- Gilbert John R.
- Gill Michael
- Goate Alison M.
- Golamaully Feroze
- Golde Todd E.
- Graff Caroline
- Graff-Radford Neill R.
- Graham Robert R
- Green Robert C.
- Grenier-Boley Benjamin
- Grove Megan L.
- Growdon John H.
- Gu Wei
- Gudnason Vilmundur
- Guerreiro Rita
- Haapasalo Annakaisa
- Haines Jonathan L.
- Hakonarson Hakon
- Hamilton Ronald L.
- Hamilton-Nelson Kara L.
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hardy John
- Harold Denise
- Harrell Lindy E.
- Hartmann Annette M.
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Henández Isabel
- Herms Stefan
- Heun Reinhard
- Hill Matt
- Hiltunen Mikko
- Himali Jayanadra J.
- Hodges Angela
- Hoffmann Per
- Hofman Albert
- Holmes Clive
- Honig Lawrence S.
- Huebinger Ryan M.
- Huentelman Matthew J.
- Hughes Joseph T.
- Hulette Christine M.
- Hyman Bradley T.
- Ikram M Arfan
- Ingelsson Martin
- Jakobsdottir Johanna
- Jarvik Gail P.
- Jessen Frank
- Jian Xueqiu
- Jin Lee-Way
- Johnston Janet
- Jones Lesley
- Jr W T Longstreth
- Jun Gyungah
- Kamboh M Ilyas
- Karydas Anna
- Katz Mindy J.
- Kauwe John Keoni
- Kaye Jeffrey A.
- Keene C Dirk
- Keller Lina
- Kilander Lena
- Kim Ronald
- Kinhult-Stählbom Anne
- Kloszewska Iwona
- Koivisto Anne Maria
- Kornhuber Johannes
- Kowall Neil W.
- Kramer Joel H.
- Kukull Walter A.
- Kunkle Brian W.
- Kuzma Amanda B.
- Laferla Frank M.
- Lah James J.
- Lambert Jean-Charles
- Lannfelt Lars
- Larson Eric B.
- Lawlor Brian
- Leber Markus
- Leverenz James B.
- Levey Allan I.
- Levy Daniel
- Li Ge
- Li Hongdong
- Li Shuo
- Lieberman Andrew P.
- Lilius Lena
- Lin Honghuang
- Lipton Richard B.
- Lleó Alberto
- Lopez Oscar L.
- Lord Jenny
- Lovestone Simon
- Lunetta Kathryn L.
- Lupton Michelle K.
- Lyketsos Constantine G.
- Lynch Aoibhinn
- Maier Wolfgang
- Majounie Elisa
- Malamon John
- Maletta Raffaele Giovanni
- Mancuso Michelangelo
- Marshall Rachel
- Marson Daniel C.
- Martin Eden R.
- Martiniuk Frank
- Mash Deborah C.
- Masliah Eliezer
- Masullo Carlo
- Mayeux Richard
- Mayhaus Manuel
- McCormick Wayne C.
- McCurry Susan M.
- McDavid Andrew N.
- McGuinness Bernadette
- McKee Ann C.
- Mead Simon
- Mecocci Patrizia
- Medway Christopher
- Meggy Alun
- Mesulam Marsel
- Miller Bruce L.
- Miller Carol A.
- Miller Joshua W.
- Moebus Susanne
- Montine Thomas J.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Taniesha
- Morris John C.
- Mosley Thomas H.
- Mukherjee Shubhabrata
- Munger Ron
- Murrell Jill R.
- Myers Amanda J.
- Nacmias Benedetta
- Naj Adam C
- Naranjo Maria Candida Deniz
- Norton Maria
- Nöthen Markus M.
- O'Bryant Sid
- O'Donnell Christopher J.
- O'Donovan Michael C.
- Olaso Robert
- Olichney John M.
- Orfei Maria Donata
- Ortega-Cubero Sara
- Owen Michael J.
- Pankratz Vernon S.
- Panza Francesco
- Parisi Joseph E.
- Pasquier Florence
- Passmore Peter
- Pastor Pau
- Patel Yogen
- Paulson Henry L.
- Pericak-Vance Margaret A.
- Perry William
- Peskind Elaine
- Peters Oliver
- Petersen Ronald C.
- Pichler Sabrina
- Pierce Aimee
- Pilotto Alberto
- Poon Wayne W.
- Potter Huntington
- Powell John
- Price Nathan D.
- Proitsi Petra
- Psaty Bruce M.
- Qu Liming
- Quinn Joseph F.
- Raj Ashok
- Ramirez Alfredo
- Raskind Murray
- Raybould Rachel
- Reiman Eric M.
- Reisberg Barry
- Reisch Joan S.
- Reitz Christiane
- Riedel-Heller Steffi
- Riemenschneider Matthias
- Ringman John M.
- Ritchie Karen
- Rivadeneira Fernando
- Roberson Erik D.
- Rogaeva Ekaterina
- Rosen Howard J.
- Rosenberg Roger N.
- Rotter Jerome I.
- Royall Donald R.
- Rubinsztein David C
- Ruiz Agustin
- Rujescu Dan
- Sacchinelli Eleonora
- Sager Mark A.
- Sano Mary
- Satizabal Claudia L.
- Saykin Andrew J.
- Scarpini Elio
- Schellenberg Gerard D.
- Scherer Martin
- Schmidt Helena
- Schmidt Reinhold
- Schneider Julie A.
- Schneider Lon S.
- Seeley William W.
- Septier Gislain
- Seripa Davide
- Serpente Maria
- Seshadri Sudha
- Shaw Christopher E.
- Sims Rebecca
- Sleegers Kristel
- Smith Albert V.
- Smith Amanda G.
- Soininen Hilkka
- Solfrizzi Vincenzo
- Sonnen Joshua A.
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spalletta Gianfranco
- Spina Salvatore
- Squassina Alessio
- St George-Hyslop Peter
- Stern Robert A.
- Sussams Rebecca
- Swerdlow Russell H.
- Sánchez-Juan Pascual
- Tanzi Rudolph E.
- Tarraga Lluis
- Taylor Sarah
- Thomas Charlene
- Thomas Rhodri
- Thonberg Hakan
- Thornton-Wells Tricia A.
- Todd Stephen
- Trojanowski John Q.
- Troncoso Juan C.
- Tschanz Joann
- Tsolaki Magda
- Tsuang Debby W.
- Turton James
- Tzourio Christophe
- Tzourio Christophe
- Uitterlinden Andre G.
- Uphill James
- Urbano Maria
- Valladares Otto
- Van Broeckhoven Christine
- Van Deerlin Vivianna M.
- Van Der Lee Sven J
- Van Duijn Cornelia M.
- Van Eldik Linda J.
- Vandenberghe Rik
- Vardarajan Badri N.
- Vellas Bruno
- Vinters Harry V.
- Vonsattel Jean Paul
- Vronskaya Maria
- Wallon David
- Wang Li-San
- Wang Xue
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- White Charles C.
- Whitehead Patrice
- Wilhelmsen Kirk C.
- Williams Julie
- Williamson Jennifer
- Wingo Thomas S.
- Winslow Ashley R.
- Wolters Frank J
- Woltjer Randall L.
- Wright Clinton B.
- Wu Chuang-Kuo
- Yang Qiong
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zhao Yi
- Publication venue
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
- Bruce Robert
- Bruno William J.
- Bruskiewich Richard
- Bryant Jackie
- Bryant Jennifer E.
- Bryant Nathaniel P.
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- Kruchowski Scott S.
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- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
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