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在人类表型本体论中对癫痫发作进行建模——根据当代ILAE概念使大的表型数据易于处理

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癫痫杂志 2022年第5期8卷 457-468页

作者： David Lewis-Smith Peter D Galer Ganna Balagura 黄格格(译) 牛永利(译) 杨建仲(审) 不详

癫痫的临床特征决定了如何定义癫痫,进而指导治疗。因此,在对癫痫病因、轨迹和治疗反应的研究中,考虑构成癫痫的基本临床实体至关重要。人类表型本体论(Human phenotype ontology,HPO)广泛应用于临床和遗传学研究中用于临床特征的简明... 详细信息

癫痫的临床特征决定了如何定义癫痫,进而指导治疗。因此,在对癫痫病因、轨迹和治疗反应的研究中,考虑构成癫痫的基本临床实体至关重要。人类表型本体论(Human phenotype ontology,HPO)广泛应用于临床和遗传学研究中用于临床特征的简明交流和建模,其允许使用逻辑推理来协调提取的数据。我们试图重新设计HPO癫痫亚本体,以提高其与当前癫痫概念的一致性,同时支持在高通量临床和基因组研究中应用大型临床数据集。根据2017年国际抗癫痫联盟对癫痫发作类型的分类,我们创建了一个新的HPO癫痫亚本体,并在不同细节层次上整合了癫痫持续状态、热性惊厥、反射性发作和新生儿癫痫的概念。我们比较了修订前后的HPO癫痫亚本体,根据3个独立队列中791例患者的癫痫发作信息可以推断:其中2个独立队列的信息先前已发表过,还有150例患者是新招募的。每个队列的数据以不同的格式提供,并通过两个版本的HPO进行协调。新的癫痫亚本体将癫痫发作的描述性概念数量增加了5倍。可标注到队列中的癫痫发作描述符号数量增加了40%,关于个体癫痫发作的信息总量增加了38%。最重要的定性差异是局灶性进展为双侧强直-阵挛发作与全面起始和局灶起始发作的关系。我们已经生成了一个详细的当代概念图,用于协调临床癫痫发作数据,并在2020-12-07 HPO的官方版本中实施,并在***免费提供。这将有助于克服基因组学中的表型瓶颈,促进有价值数据的再利用,并最终提高对癫痫的诊断和精准治疗。

关键词：大数据分类癫痫遗传学

FAIR Principles:Interpretations and Implementation Considerations

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Data Intelligence 2020年第1期2卷 10-29,293-302,322页

作者： Annika Jacobsen Ricardo de Miranda Azevedo Nick Juty Dominique Batista Simon Coles Ronald Cornet Melanie Courtot Merce Crosas Michel Dumontier Chris T.Evelo Carole Goble Giancarlo Guizzardi Karsten Kryger Hansen Ali Hasnain Kristina Hettne Jaap Heringa Rob W.W.Hooft Melanie Imming Keith G.Jeffery Rajaram Kaliyaperumal Martijn GKersloot Christine R.Kirkpatrick Tobias Kuhn Ignasi Labastida Barbara Magagna PeterMcQuilton Natalie Meyers Annalisa Montesanti Mirjam van Reisen Philippe Rocca-Serra Robert Pergl Susanna-Assunta Sansone Luiz Olavo Bonino da Silva Santos Juliane Schneider George Strawn Mark Thompson Andra Waagmeester Tobias Weigel Mark D.Wilkinson Egon L.Willighagen Peter Wittenburg Marco Roos Barend Mons Erik Schultes Leiden University Medical Center Leiden2333 ZAThe Netherlands Institute of Data Science Maastricht UniversityUniversiteitssingel 60Maastricht 6229 ERThe Netherlands Department of Computer Science The University of ManchesterOxford RoadManchester M139PLUK Oxford e-Research Centre Department of Engineering SciencesUniversity of OxfordOxford OX13PJUK School of Chemistry Faculty of Engineering and Physical SciencesUniversity of SouthamptonSO171BJUK Amsterdam UMC University of AmsterdamAmsterdam 1000 GGThe Netherlands European Bioinformatics Institute(EMBL-EBI) HinxtonCambridgeCB101SDUK Harvard University CambridgeMassachusetts 02138USA Department of Bioinformatics–BiGCaT NUTRIMMaastricht UniversityMaastricht 6229 ERThe Netherlands Conceptual and Cognitive Modeling Research Group(CORE) Free University of Bozen-BolzanoBolzano 39100Italy Aalborg University Aalborg DK-9220Denmark Insight Centre for Data Analytics National University of Ireland GalwayH91 TK33Ireland Centre for Digital Scholarship Leiden University LibrariesLeiden2333 ZAThe Netherlands Department of Computer Science Vrije Universiteit AmsterdamDe Boelelaan 11051081 HV AmsterdamThe Netherlands Dutch Techcentre for Life Sciences(DTL) UtrechtThe Netherlands SURF Utrecht 3511 EPThe Netherlands Keith G Jeffery Consultants FaringdonUK Castor EDC Paasheuvelweg 25Wing 5D1105 BPAmsterdamThe Netherlands San Diego Supercomputer Center University of California San DiegoLa JollaCalifornia 92093USA Learning and Research Resources Centre(CRAI) Universitat de Barcelona08007 BarcelonaSpain Environment Agency Austria A-1090 ViennaAustria University of Notre Dame 75004 ParisFrance Health Research Board(HRB) Dublin 2DO2 H638Ireland Liacs Institute of Advanced Computer Science Leiden University2311 GJ LeidenThe Netherlands Czech Technical University in Prague Faculty of Information Technology(FIT CTU)16000 Prague 6Czech Republic GO FAIR International Support&Coordination Office(GFISCO) LeidenThe Netherlands Harvard Catalys

The FAIR principles have been widely cited,endorsed and adopted by a broad range of stakeholders since their publication in *** intention,the 15 FAIR guiding principles do not dictate specific technological implementations,but provide guidance for improving Findability,Accessibility,Interoperability and Reusability of digital *** has likely contributed to the broad adoption of the FAIR principles,because individual stakeholder communities can implement their own FAIR ***,it has also resulted in inconsistent interpretations that carry the risk of leading to incompatible ***,while the FAIR principles are formulated on a high level and may be interpreted and implemented in different ways,for true interoperability we need to support convergence in implementation choices that are widely accessible and(re)-*** introduce the concept of FAIR implementation considerations to assist accelerated global participation and convergence towards accessible,robust,widespread and consistent FAIR *** self-identified stakeholder community may either choose to reuse solutions from existing implementations,or when they spot a gap,accept the challenge to create the needed solution,which,ideally,can be used again by other communities in the ***,we provide interpretations and implementation considerations(choices and challenges)for each FAIR principle.

关键词： FAIR guiding principles FAIR implementation FAIR convergence FAIR communities choices and challenges

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基因位点和慢性、广泛性的肌肉骨骼疼痛

中国康复 2021年第10期36卷 611-611页

作者：赵婧(译) Rahman S Department of Twin Research and Genetic Epidemiology School of Life Course Sciences King's College London Department of Research Innovation and EducationDivision of Clinical Neuroscience Oslo University Hospital Department of Neurology Oslo universitetssykehus Ullevål Department of Internal Medicine Erasmus Medical Center K. G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Research and Communication Unit for Musculoskeletal Health (FORMI) Department of Research Innovation and Education Division of Clinical Neuroscience Laboratory of Theoretical and Applied Functional Genomics Novosibirsk State University PolyOmica ‘s-Hertogenbosch Laboratory of Recombination and Segregation Analysis Institute of Cytology and Genetics 10 Lavrentiev Avenue Department of Neuromedicine and Movement Science Faculty of Medicine and Health Sciences Clinical Research Unit Central Norway St Olavs University Hospital Department of Public Health and Nursing Faculty of Medicine and Health Sciences HUNT Research Center Department of Public Health and Nursing Faculty of Medicine and Health Sciences

慢性广泛性疼痛(CWP)的全球患病率大约为10.6%。虽然已知慢性疼痛有共同的遗传因素,但有关特定基因位点影响的数据仍然没有定论。这项对CWP患者的研究调查了这种情况的病理生理机制。使用英国数据库进行了一项全基因组的CWP患者关联研究... 详细信息

慢性广泛性疼痛(CWP)的全球患病率大约为10.6%。虽然已知慢性疼痛有共同的遗传因素,但有关特定基因位点影响的数据仍然没有定论。这项对CWP患者的研究调查了这种情况的病理生理机制。使用英国数据库进行了一项全基因组的CWP患者关联研究,包括249843名参与者。CWP表型是通过结合全身疼痛至少持续3个月的自我报告诊断来定义的。

关键词：病理生理机制自我报告基因位点慢性疼痛遗传因素肌肉骨骼疼痛患病率数据库

在 7T 的多原子的磁性的回声光谱学的应用

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World Journal of Radiology 2011年第4期3卷 105-113页

作者： Mary C Stephenson Frances Gunner Antonio Napolitano Paul L Greenhaff Ian A MacDonald Nadeem Saeed William Vennart Susan T Francis Peter G Morris The Sir Peter Mansfield Magnetic Resonance Centre School of Physics and AstronomyUniversity of Nottingham School of Biomedical Sciences University of Nottingham Medical School Academic Radiology University of Nottingham Molecular Medicine PfizerSandwich

AIM: To discuss the advantages of ultra-high field (7T) for 1H and 13C magnetic resonance spectroscopy (MRS) studies of *** at both 3 and 7T using 1H MRS. Measurements of glycogen and lipids in muscle were measured using 13C and 1H MRS respectively. RESULTS: In the brain, increased signal-to-noise ratio (SNR) and dispersion allows spectral separation of the amino-acids glutamate, glutamine and γ-aminobutyric acid (GABA), without the need for sophisticated editing sequences. Improved quantification of these me-tabolites is demonstrated at 7T relative to 3T. SNR was 36% higher, and measurement repeatability (% coefficients of variation) was 4%, 10% and 10% at 7T, vs 8%, 29% and 21% at 3T for glutamate, glutamine and GABA respectively. Measurements at 7T were used to compare metabolite levels in the anterior cingulate cortex (ACC) and insula. Creatine and glutamate levels were found to be significantly higher in the insula compared to the ACC (P < 0.05). In muscle, the increased SNR and spectral resolution at 7T enables interleaved studies of glycogen (13C) and intra-myocellular lipid (IMCL) and extra-myocellular lipid (EMCL) (1H) following exercise and refeeding. Glycogen levels were sig-nificantly decreased following exercise (-28% at 50% VO2 max; -58% at 75% VO2 max). Interestingly, levels of glycogen in the hamstrings followed those in the quadriceps, despite reduce exercise loading. No changes in IMCL and EMCL were found in the study. CONCLUSION: The demonstrated improvements in brain and muscle MRS measurements at 7T will increase the potential for use in investigating human metabolism and changes due to pathologies.

关键词： Magnetic resonance spectroscopy 13C 1H 7 Tesla Glutamate Glutamine γ-aminobutyric acid

A map of human genome variation from population-scale sequencing

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A map of human genome variation from population-scale sequen...