30 research outputs found
The Human Phenotype Ontology in 2024: phenotypes around the world
- Author
- Addo-Lartey EB
- Anagnostopoulos AV
- Anderton J
- Avillach P
- Bagley AM
- Bakstein E
- Balhoff JP
- Baynam G
- Bello SM
- Berk M
- Bertram H
- Bishop S
- Blau H
- Bodenstein DF
- Botas P
- Boztug K
- Cady J
- Cajbikova NN
- Callahan TJ
- Cameron R
- Carbon SJ
- Carmody LC
- Castellanos F
- Caufield JH
- Chan LE
- Chute CG
- Coleman B
- Cruz-Rojo J
- Dahan-Oliel N
- Danis D
- Davids JR
- de Dieuleveult M
- de Souza V
- de Vries BBA
- de Vries E
- DePaulo JR
- Derfalvi B
- Dhombres F
- Diaz-Byrd C
- Dingemans AJM
- Donadille B
- Duyzend M
- Elfeky R
- Essaid S
- Fabrizzi C
- Fico G
- Firth HV
- Freudenberg-Hua Y
- Fullerton JM
- Gabriel DL
- Gargano MA
- Gilmour K
- Giordano J
- Goes FS
- Green I
- Griese M
- Groza T
- Gu W
- Guthrie J
- Gyori B
- Haendel MA
- Hamosh A
- Hanauer M
- Hanusova K
- Harris NL
- He YO
- Hegde H
- Helbig I
- Holasova K
- Hoyt CT
- Huang S
- Hurwitz E
- Jacobsen JOB
- Jiang X
- Joseph L
- Keramatian K
- King B
- Knoflach K
- Kohler S
- Koolen DA
- Kraus ML
- Kroll C
- Kusters M
- Ladewig MS
- Lagorce D
- Lai M-C
- Lapunzina P
- Laraway B
- Lewis-Smith D
- Li X
- Lucano C
- Majd M
- Marazita ML
- Martinez-Glez V
- Matentzoglu N
- McHenry TH
- McInnis MG
- McMurry JA
- Mihulova M
- Millett CE
- Mitchell PB
- Moses RG
- Moslerova V
- Mungall CJ
- Munoz-Torres MC
- Narutomi K
- Nematollahi S
- Nevado J
- Nierenberg AA
- Nurnberger JI
- Ogishima S
- Olson D
- Ortiz A
- Pachajoa H
- Perez de Nanclares G
- Peters A
- Putman T
- Rapp CK
- Rath A
- Reese J
- Rekerle L
- Roberts AM
- Robinson PN
- Roy S
- Sanders SJ
- Schuetz C
- Schulte EC
- Schulze TG
- Schwarz M
- Scott K
- Seelow D
- Seitz B
- Shen Y
- Similuk MN
- Simon ES
- Singh B
- Smedley D
- Smith CL
- Smolinsky JT
- Sperry S
- Stafford E
- Stefancsik R
- Steinhaus R
- Strawbridge R
- Sundaramurthi JC
- Talapova P
- Tenorio Castano JA
- Tesner P
- Thomas RH
- Thurm A
- Toro S
- Turnovec M
- van Gijn ME
- Vasilevsky NA
- Vlckova M
- Walden A
- Wang K
- Wapner R
- Ware JS
- Wiafe AA
- Wiafe SA
- Wiggins LD
- Williams AE
- Wu C
- Wyrwoll MJ
- Xiong H
- Yalin N
- Yamamoto Y
- Yatham LN
- Yocum AK
- Young AH
- Yuksel Z
- Zandi PP
- Zankl A
- Zarante I
- Zvolsky M
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 05/01/2024
- Field of study
\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs
Pan-cancer analysis of whole genomes
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- The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium View Correspondence (jump link)
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- Zhang H. b
- Zhao
- Zheng
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- zi zj
- zm Jayaseelan
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- zt Kim
- zw Lewis
- Ă. A. th
- Ă. sk
- Publication venue
- Publication date
- 11/12/2019
- Field of study
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe
Search for dark matter produced in association with a Higgs boson decaying to a pair of bottom quarks in proton-proton collisions at root s=13TeV
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- Ăzçelik Ă
- Publication venue
- Publication date
- 01/01/2018
- Field of study
A search for dark matter produced in association with a Higgs boson decaying to a pair of bottom quarks is performed in proton-proton collisions at a center-of-mass energy of 13 TeV collected with the CMS detector at the LHC. The analyzed data sample corresponds to an integrated luminosity of 35.9 fb(-1). The signal is characterized by a large missing transverse momentum recoiling against a bottom quark-antiquark system that has a large Lorentz boost. The number of events observed in the data is consistent with the standard model background prediction. Results are interpreted in terms of limits both on parameters of the type-2 two-Higgs doublet model extended by an additional light pseudoscalar boson a (2HDM+a) and on parameters of a baryonic Z simplified model. The 2HDM+a model is tested experimentally for the first time. For the baryonic Z model, the presented results constitute the most stringent constraints to date.Peer reviewe
A Deep Neural Network for Simultaneous Estimation of b Jet Energy and Resolution
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- Zuolo D
- Ăzçelik Ă
- Publication venue
- Publication date
- 01/01/2020
- Field of study
We describe a method to obtain point and dispersion estimates for the energies of jets arising from b quarks produced in proton-proton collisions at an energy of s = 13 TeV at the CERN LHC. The algorithm is trained on a large sample of simulated b jets and validated on data recorded by the CMS detector in 2017 corresponding to an integrated luminosity of 41 fb - 1 . A multivariate regression algorithm based on a deep feed-forward neural network employs jet composition and shape information, and the properties of reconstructed secondary vertices associated with the jet. The results of the algorithm are used to improve the sensitivity of analyses that make use of b jets in the final state, such as the observation of Higgs boson decay to b b ÂŻ
Search for dark matter produced in association with a leptonically decaying Z boson in protonâproton collisions at sâ=13TeV
- Author
- Aarrestad TK
- Abbaneo D
- Abbiendi G
- Abbrescia M
- Abdullah WATW
- Abdullin S
- Abercrombie D
- Acharya H
- Acosta D
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- Vitulo P
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- Vlimant JR
- Voevodina E
- Volkov A
- Volkov S
- Volobouev I
- Vormwald B
- Vorobiev I
- Vorobyev A
- Vourliotis E
- Voutilainen M
- Voytishin N
- VĂĄmi TĂ
- Wadud MA
- Wagner SR
- Walczak M
- Wallny R
- Walsh R
- Waltenberger W
- Walter D
- Wamorkar T
- Wang B
- Wang D
- Wang F
- Wang H
- Wang H
- Wang J
- Wang J
- Wang J
- Wang L
- Wang Q
- Wang Q
- Wang S
- Wang S
- Wang TW
- Wang X
- Wang Y
- Wang Y
- Wang Z
- Wang Z
- Waqas M
- Wardle N
- Wassmer M
- Watson IJ
- Wayne M
- Webb SN
- Weber HA
- Weber M
- Wen Y
- Wertz S
- West C
- Wetzel J
- Wezenbeek L
- Whitbeck A
- Wichmann K
- Wickramage N
- Wickramarathna D
- Wiedenbeck S
- Wightman A
- Williams J
- Williams T
- Willmott C
- Wilson G
- Wilson J
- Wimpenny S
- Winer BL
- Winterbottom D
- Wisecarver A
- Wissing C
- Wittich P
- Wolf M
- Wolf R
- Wolfe E
- Wong K
- Wong WY
- Wood D
- Woodard A
- Wozniak KA
- Wozniewski S
- Wright D
- Wu Z
- Wuchterl S
- Wulz C-E
- Wuyckens S
- Wyslouch B
- WĂŒrthwein F
- Xia F
- Xiao J
- Xiao M
- Xiao R
- Xie S
- Xie W
- Yagil A
- Yalvac M
- Yan F
- Yang UK
- Yang YC
- Yao Y
- Yarar H
- Yates BR
- Yazgan E
- Yetkin EA
- Yi K
- Yohay R
- Yoo HD
- Yoo J
- Yoon I
- You Z
- Yu D
- Yu GB
- Yu I
- Yu SS
- Yuan L
- Yuan S
- Yumiceva F
- Yusli MN
- Yzquierdo AP-C
- Zabi A
- Zacharopoulou A
- Zahid S
- Zaleski S
- Zalewski P
- Zanetti M
- Zarubin A
- Zarucki M
- Zecchinelli AG
- Zenaiev O
- Zeuner WD
- Zghiche A
- Zhang F
- Zhang H
- Zhang J
- Zhang S
- Zhang W
- Zhang Y
- Zhang Z
- Zhao J
- Zhizhin I
- Zhokin A
- Zhu DH
- Zhu RY
- Ziemons T
- Zientek M
- Zlebcik R
- Zobec J
- Zoi I
- Zolkapli Z
- Zorbakir IS
- Zorbilmez C
- Zotto P
- Zou D
- Zucchetta A
- Zumerle G
- Zuo X
- Zuolo D
- Zygala L
- Ălvarez CR
- Ăzçelik Ă
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/12/2020
- Field of study
A search for dark matter particles is performed using events with a Z boson candidate and large missing transverse momentum. The analysis is based on protonâproton collision data at a center-of-mass energy of 13TeV, collected by the CMS experiment at the LHC in 2016â2018, corresponding to an integrated luminosity of 137fbâ1. The search uses the decay channels Zâee and ZâΌΌ. No significant excess of events is observed over the background expected from the standard model. Limits are set on dark matter particle production in the context of simplified models with vector, axial-vector, scalar, and pseudoscalar mediators, as well as on a two-Higgs-doublet model with an additional pseudoscalar mediator. In addition, limits are provided for spin-dependent and spin-independent scattering cross sections and are compared to those from direct-detection experiments. The results are also interpreted in the context of models of invisible Higgs boson decays, unparticles, and large extra dimensions.SCOAP
Phenolic contents and antioxidant properties from aerial parts of achyranthes coynei sant
- Publication venue
- Medknow Publications
- Publication date
- 01/01/2013
- Field of study
Aim of the study was to evaluate antioxidant activity and total phenolic content of Achyranthes coynei; an endemic plant used in treatment of several diseases in the same lines that of Achyranthes aspera by traditional practitioners of Belgaum region. Efficiency of extraction methods was studied for aerial parts (leaves, stem, and inflorescence) extracted in methanol using continuous shaking, microwave assisted and ultra sonic extraction technique, by exposing it for different time period. Total phenolic content was measured by Folin-Ciocalteu method and antioxidant activity using 2,2âČ-diphenyl-1-picryl hydrazyl radical scavenging assay and ferric reducing antioxidant power assay. Extracts of A. coynei revealed highest yield of total phenolic content in continuous shaking method compared to other methods. Significantly higher amount of phenolic content (467.07Î23.35 tannic acid equivalent and 360.83Î18.04 caffic acid equivalent mg/100 g FW) was estimated at 360 min of continuous shaking extraction. In 2,2âČ-diphenyl-1-picryl hydrazyl radical scavenging assay and ferric reducing antioxidant power assay, inflorescence and leaf showed highest potential activity, respectively. Stem extracts showed lower yield of total phenolic content and antioxidant activity. Results also showed 2,2âČ-diphenyl-1-picryl hydrazyl radical scavenging assay had significant correlation with total phenolic content. This is first report of total phenolic content and antioxidant studies in A. coynei
A new tocotrienol from the roots and branches of Allophylus cobbe
- Author
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Increased insulin and GLUT2 gene expression and elevated glucokinase activity in ÎČ-like cells of islets of langerhans differentiated from human haematopoietic stem cells on treatment with Costus igneus leaf extract
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Protection of wear resistance behaviour of enamel against electron beam irradiation
- Author
- A Jemal
- AG Zygogianni
- AH Person
- AM GarcĂa-Bores
- AM Kielbassa
- CJ Soares
- D Bajaj
- DH Koga
- DK Whittaker
- E Andrews
- E Pucéat
- FDI World Dental Federation.
- GA Zach
- GI Mun
- H Eimar
- HV Amith
- J Reyes-Gasga
- J Xue
- J Zheng
- J Zheng
- JD Featherstone
- JO Deasy
- John-David P. McElderry
- L Eliasson
- M Naseem
- MA Garrido
- MD Leslie
- MN Hegde
- MP Walker
- MT Kato
- R Barrios
- S Devi
- S Mellara
- S Zhang
- SL Wen
- T Aoba
- W Hubner
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Serotonin 5-HT4 receptors in the nucleus accumbens are specifically involved in the appetite suppressant and not locomotor stimulant effects of MDMA (âecstasyâ)
- Author
- A Jean
- A McGregor
- AC Parrott
- C Reavill
- C Waeber
- CH Frith
- CT Dourish
- CW Callaway
- CW Callaway
- EJ Bilsky
- GF Koob
- H. M. Francis
- HV Curran
- J. L. Cornish
- JA Rochester
- JD Cance
- JE Blundell
- JJ Lucas
- L Degenhardt
- L. R. Hunt
- LH Gold
- LJ Spanos
- LR McMahon
- N. J. Kraushaar
- National Health and Medical Research Council
- NM Barnes
- PG Clifton
- PH Kelly
- PJ Fletcher
- PJ Fletcher
- S Laraway
- SJ Cooper
- SL Stock
- SP Vickers
- SR White
- SS Hegde
- T Domenech
- TR Stratford
- United Nations Office on Drugs and Crime (UNDOC)
- V Compan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study