cometadata/datacite-rtg-text-other-reclassification-records huggingface dataset:
Fragile DNA Motifs Trigger Mutagenesis at Distant Chromosomal Loci in Saccharomyces cerevisiae
Creators: name: Zhang, Yu
name: Choudhury, Shilpa
name: Sheng, Ziwei
name: Saini, Natalie
name: Nishida, Yuri
name: Lobachev, Kirill S.
name: Mieczkowski, Piotr
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: DNA sequences capable of adopting non-canonical secondary structures have been associated with gross-chromosomal rearrangements in humans and model organisms. Previously, we have shown that long inverted repeats that form hairpin and cruciform structures and triplex-forming GAA/TTC repeats induce the formation of double-strand breaks which trigger genome instability in yeast. In this study, we demonstrate that breakage at both inverted repeats and GAA/TTC repeats is augmented by defects in DNA replication. Increased fragility is associated with increased mutation levels in the reporter genes located as far as 8 kb from both sides of the repeats. The increase in mutations was dependent on the presence of inverted or GAA/TTC repeats and activity of the translesion polymerase Polζ. Mutagenesis induced by inverted repeats also required Sae2 which opens hairpin-capped breaks and initiates end resection. The amount of breakage at the repeats is an important determinant of mutations as a perfect palindromic sequence with inherently increased fragility was also found to elevate mutation rates even in replication-proficient strains. We hypothesize that the underlying mechanism for mutagenesis induced by fragile motifs involves the formation of long single-stranded regions in the broken chromosome, invasion of the undamaged sister chromatid for repair, and faulty DNA synthesis employing Polζ. These data demonstrate that repeat-mediated breaks pose a dual threat to eukaryotic genome integrity by inducing chromosomal aberrations as well as mutations in flanking genes.
Bose-Einstein condensation and Silver Blaze property from the two-loop $Φ$-derivable approximation
Creators: name: Markó, Gergely
name: Reinosa, Urko
name: Szép, Zsolt
Publisher: name: arXiv
Year: 2014
Subjects: subject: High Energy Physics - Phenomenology (hep-ph)
subject: High Energy Physics - Theory (hep-th)
subject: FOS: Physical sciences

description: We extend our previous investigation of the two-loop $Φ$-derivable approximation to finite chemical potential $μ$ and discuss Bose-Einstein condensation (BEC) in the case of a charged scalar field with $O(2)$ symmetry. We show that the approximation is renormalizable by means of counterterms which are independent of both the temperature and the chemical potential. We point out the presence of an additional skew contribution to the propagator as compared to the $μ=0$ case, which comes with its own gap equation (except at Hartree level). We solve this equation together with the field equation, and the usual longitudinal and transversal gap equations to find that the transition is second order, in agreement with recent lattice results to which we compare. We also discuss a general criterion an approximation should obey for the so-called Silver Blaze property to hold, and we show that any $Φ$-derivable approximation at finite temperature and density obeys this criterion if one chooses a UV regularization that does not cut off the Matsubara sums.
description: 22 pages, 6 figures, uses RevTeX 4-1
Gene × Physical Activity Interactions in Obesity: Combined Analysis of 111,421 Individuals of European Ancestry
Creators: name: Pedersen, Nancy L.
name: Langenberg, Claudia
name: Jensen, Majken K.
name: Pasquale, Louis T.
name: Sandholt, Camilla H.
name: Koivula, Robert W.
name: Rukh, Gull
name: Grarup, Niels
name: Shungin, Dmitry
name: Allin, Kristine H.
name: Varga, Tibor V.
name: Jørgensen, Torben
name: Ali, Ashfaq
name: Rose, Lynda M.
name: Linneberg, Allan
name: Magnusson, Patrik K. E.
name: Ahmad, Shafqat
name: Boehnke, Michael
name: Brage, Soren
name: Qi, Qibin
name: Curhan, Gary
name: Ericson, Ulrika
name: Tamimi, Rulla M.
name: Paré, Guillaume
name: Kurbasic, Azra
name: Mohlke, Karen L.
name: Ganna, Andrea
name: Hamsten, Anders
name: Stančáková, Alena
name: Elks, Cathy E.
name: Chu, Audrey Y.
name: Aadahl, Mette
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibility loci were genotyped or imputed in 111,421 participants. A genetic risk score (GRS) was calculated by summing the BMI-associated alleles of each genetic variant. Physical activity was assessed using self-administered questionnaires. Multiplicative interactions between the GRS and physical activity on BMI were tested in linear and logistic regression models in each cohort, with adjustment for age, age2, sex, study center (for multicenter studies), and the marginal terms for physical activity and the GRS. These results were combined using meta-analysis weighted by cohort sample size. The meta-analysis yielded a statistically significant GRS × physical activity interaction effect estimate (Pinteraction = 0.015). However, a statistically significant interaction effect was only apparent in North American cohorts (n = 39,810, Pinteraction = 0.014 vs. n = 71,611, Pinteraction = 0.275 for Europeans). In secondary analyses, both the FTO rs1121980 (Pinteraction = 0.003) and the SEC16B rs10913469 (Pinteraction = 0.025) variants showed evidence of SNP × physical activity interactions. This meta-analysis of 111,421 individuals provides further support for an interaction between physical activity and a GRS in obesity disposition, although these findings hinge on the inclusion of cohorts from North America, indicating that these results are either population-specific or non-causal.
Mapping the 3D Cosmic Web at Cosmic Noon with Lyman-alpha Absorption Tomography
Creators: name: Lee, Khee-Gan
Publisher: name: Zenodo
Year: 2023

description: At z>2, the residual hydrogen gas the intergalactic medium (IGM) is observed as the Lyman-alpha forest absorption imprinted on background spectra. Traditionally treated as 1D probes using bright quasars, we are now entering the regime where more ubiquitous UV-bright galaxies can be used to probe the Lyman-alpha forest. With much smaller sightline separations, we can now probe the 3D cosmic web structure traced by the forest, i.e. 'IGM tomography'. I will focus on new numerical techniques that allow us to reconstruct the detailed 3D structure of the IGM at cosmic noon, and describe some new results from the CLAMATO survey. Finally, I will give an overview of the future directions of surveys that will exploit this technique, particularly the Subaru Prime Focus Spectrograph which will come online in 2024.
The Properties of Lyman Alpha Nebulae: Gas Kinematics from Non-resonant Lines
Creators: name: Yang, Yujin
name: Zabludoff, Ann
name: Jahnke, Knud
name: Davé, Romeel
Publisher: name: arXiv
Year: 2014
Subjects: subject: Astrophysics of Galaxies (astro-ph.GA)
subject: FOS: Physical sciences

description: [Abridged] With VLT/X-shooter, we obtain optical and NIR spectra of six Ly-alpha blobs at z~2.3. Using three measures --- the velocity offset between the Lya line and the non-resonant [OIII] or H-alpha line (Dv_Lya), the offset of stacked interstellar metal absorption lines, and the spectrally-resolved [OIII] line profile --- we study the kinematics of gas along the line of sight to galaxies within each blob center. These three indicators generally agree in velocity and direction, and are consistent with a simple picture in which the gas is stationary or slowly outflowing at a few hundred km/s from the embedded galaxies. The absence of stronger outflows is not a projection effect: the covering fraction for our sample is limited to <1/8 (13%). The outflow velocities exclude models in which star formation or AGN produce "super" or "hyper" winds of up to ~1000km/s. The Dv_Lya offsets here are smaller than typical of LBGs, but similar to those of compact LAEs. The latter suggests that outflow speed cannot be a dominant factor in driving extended Lya emission. For one Lya blob (CDFS-LAB14), whose Lya profile and metal absorption line offsets suggest no significant bulk motion, we use a simple radiative transfer model to make the first column density measurement of gas in an embedded galaxy, finding it consistent with a DLA system. Overall, the absence of clear inflow signatures suggests that the channeling of gravitational cooling radiation into Lya is not significant over the radii probed here. However, one peculiar system (CDFS-LAB10) has a blueshifted Lya component that is not obviously associated with any galaxy, suggesting either displaced gas arising from tidal interactions among blob galaxies or gas flowing into the blob center. The former is expected in these overdense regions, and the latter might signify the predicted but elusive cold gas accretion along filaments.
description: 22 pages, 11 figures, accepted for publication in ApJ
Genetic Architecture of Skewed X Inactivation in the Laboratory Mouse
Creators: name: Pardo-Manuel de Villena, Fernando
name: Didion, John P.
name: McMillan, Leonard
name: Valdar, William
name: Wang, Jeremy R.
name: Lenarcic, Alan B.
name: Calaway, John D.
name: Searle, Jeremy B.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: X chromosome inactivation (XCI) is the mammalian mechanism of dosage compensation that balances X-linked gene expression between the sexes. Early during female development, each cell of the embryo proper independently inactivates one of its two parental X-chromosomes. In mice, the choice of which X chromosome is inactivated is affected by the genotype of a cis-acting locus, the X-chromosome controlling element (Xce). Xce has been localized to a 1.9 Mb interval within the X-inactivation center (Xic), yet its molecular identity and mechanism of action remain unknown. We combined genotype and sequence data for mouse stocks with detailed phenotyping of ten inbred strains and with the development of a statistical model that incorporates phenotyping data from multiple sources to disentangle sources of XCI phenotypic variance in natural female populations on X inactivation. We have reduced the Xce candidate 10-fold to a 176 kb region located approximately 500 kb proximal to Xist. We propose that structural variation in this interval explains the presence of multiple functional Xce alleles in the genus Mus. We have identified a new allele, Xcee present in Mus musculus and a possible sixth functional allele in Mus spicilegus. We have also confirmed a parent-of-origin effect on X inactivation choice and provide evidence that maternal inheritance magnifies the skewing associated with strong Xce alleles. Based on the phylogenetic analysis of 155 laboratory strains and wild mice we conclude that Xcea is either a derived allele that arose concurrently with the domestication of fancy mice but prior the derivation of most classical inbred strains or a rare allele in the wild. Furthermore, we have found that despite the presence of multiple haplotypes in the wild Mus musculus domesticus has only one functional Xce allele, Xceb. Lastly, we conclude that each mouse taxa examined has a different functional Xce allele.
The support of dually epi-translation invariant valuations on convex functions
Creators: name: Knoerr, Jonas
Publisher: name: arXiv
Year: 2020
Subjects: subject: Metric Geometry (math.MG)
subject: Functional Analysis (math.FA)
subject: FOS: Mathematics
subject: 52B45 (Primary) 26B25, 53C65 (Secondary)

description: We study dually epi-translation invariant valuations on cones of convex functions containing the space of finite-valued convex functions. The existence of a homogeneous decomposition is used to associate a distribution to every valuation of this type similar to the Goodey-Weil embedding for translation invariant valuations on convex bodies. The relation between the valuation and its associated distribution is used to establish a notion of support for valuations. As an application, we show that there are no $\mathrm{SL}(n)$ or translation invariant valuations except constant valuations in this class and we discuss which valuations on finite-valued convex functions can be extended to larger cones. In addition, we examine some topological properties of spaces of valuations with compact support.
description: 42 pages, corrected a circular argument in section 5, added a regularity assumption on the cones, corrected typos and references
Scacchiere storico: un ponte digitale tra accademia ed appassionati [poster]
Scacchiere storico: un ponte digitale tra accademia ed appassionati [poster]
Scacchiere storico: un ponte digitale tra accademia ed appassionati [poster]
Creators: name: Gatto, Michele
Publisher: name: M. E. Gatto, "Scacchiere storico: un ponte digitale tra accademia ed appassionati", in Book of Abstract AIPH 2022, Quarta Conferenza Nazionale di Public History, Storia bene comune, Università Ca’ Foscari Venezia, M9 – Museo del ’900. Venezia-Mestre, 27-31 maggio 2022.
Year: 2022

description: La redazione di Scacchiere Storico orienta il proprio lavoro in più direzioni. la scrittura di articoli, la scrittura di post sui social network, la realizzazione di podcast e l'organizzazione di videoconferenze o di conferenze.
BISI COMPILED.docx
Creators: name: Yusuf, Afeez
name: kabiru, Akinyemi
name: Samuel, Ajoseh
Publisher: name: figshare
Year: 2022
Subjects: subject: Diseases
subject: 111706 Epidemiology
subject: FOS: Health sciences
subject: 110303 Clinical Microbiology
subject: FOS: Clinical medicine

description: Klebsiella species is known as a common pathogen associated with both community- acquired and nosocomial infections. It is also recognized for its ability to develop resistance to antibiotics by the production of β-lactamases which can result in the failure of treatment plans. This study included 100 samples collected from two different farms, two different Abattoirs and a private Medical Centre over a period of one month from March to April, 2022. Samples collected include blood (10), urine (10), poultry dung (40) cattle blood (20), cattle rectal swab (10), goat rectal swab (5), abattoir effluent (5). Samples were cultured and identified by standard methods and confirmed using biochemical test. All isolates were subjected to antimicrobial susceptibility testing using the disk diffusion method. Antibiotic susceptibility testing revealed that Klebsiella species exhibited increasing multidrug resistance. All isolates exhibited 100% resistance to Penicillin (Ampiclox), Imipenem, Augumetin and Cefuroxime according to CLSI breakpoints. All isolates showed resistance and reduced susceptibility to Penicilin, Augmetin, Cephalosporins and carbapenems respectively. This study revealed a resistance prevalence of 100% for Penicillin, Cephalosporins and Carbapenems among other classes of antibiotics which indicates the increasing development of multidrug resistant pathogens in the environment. Proper prescription and usage of antibiotics is highly recommended.
Numerical simulations of nonlinear modes in mica: past, present and future
Creators: name: Bajars, J.
name: Eilbeck, J. C.
name: Leimkuhler, B.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Pattern Formation and Solitons (nlin.PS)
subject: FOS: Physical sciences

description: We review research on the role of nonlinear coherent phenomena (e.g breathers and kinks) in the formation linear decorations in mica crystal. The work is based on a new model for the motion of the mica hexagonal K layer, which allows displacement of the atoms from the unit cell. With a simple piece-wise polynomial inter-particle potential, we verify the existence of localized long-lived breathers in an idealized lattice at 0K. Moreover, our model allows us to observe long-lived localized kinks. We study the interactions of such localized modes along a lattice direction, and in addition demonstrate fully two dimensional scattering of such pulses for the first time. For large interatomic forces we observe a spreading horseshoe-shaped wave, a type of shock wave but with a breather profile.
INCREASING THE POSITIVE MOTIVATION OF STUDENTS IN TEACHING FOREIGN LANGUAGES
Creators: name: Graduate student of Samarkand State Institute of Foreign Languages English language Polatova Iroda Obid kizi
Publisher: name: Zenodo
Year: 2024

description: This article devoted to open the important points about increasing the positive motivation of students in teaching foreign languages. Moreover, types of motivation and its significant function in the education process were highlighted.

Key words: new horizons, 'productive failure', unfamiliar concepts, "hard-care” reputations, exercise program, individual activity, language community, instrumental motivation.
Modeling Analysis of GAMES and KENLAYER for Highway Pavement and Management
Creators: name: Khoso, Salim
Publisher: name: figshare
Year: 2023
Subjects: classificationCode: 400502
subject: Civil geotechnical engineering
classificationCode: 400504
subject: Construction engineering
classificationCode: 400505
subject: Construction materials
classificationCode: 400508
subject: Infrastructure engineering and asset management
classificationCode: 400510
subject: Structural engineering
classificationCode: 400512
subject: Transport engineering

description: Innovated trend of the mechanistic approach of flexible pavement design is used to explore the design life of the pavements. The mechanistic approach defines the phenomena by identifying the physical causes. The research explores and examines the comparison of General Analysis of Multi-layered Elastic Systems (GAMES) and KENLAYER Layered Elastic Analysis Computer Programs for asphalt highway pavement analysis and design. The programs are identical to analyze any flexible pavement; the GAMES program has an ability to model multiple pavement layers and loads with layer interface slip and higher accuracy near to the surface of the flexible pavement, whereas, KENLAYER program is used to identify the responses of the pavement. Research evaluated the capabilities of both traditional pavement structural response programs. Data used in both computer programs GAMES and KENLAYER produced the same results of deflection and showed that placing the different vertical coordinates of points in KENLAYER programs does not show zero stresses and deflection at any point. Therefore, both the programs are vital sources to analyze any flexible pavement. However, KENLAYER program has an ability to determine vertical stresses under one point but at different vertical coordinates which will be helpful in understanding from top to bottom multilayered elastic pavement. This research also estimated design traffic load applications from both the programs and access design application (ESAL) for the future research.
Anomalous magnetic ground state in LaAlO3/SrTiO3 interface probed by transport through nanowires
Creators: name: Ron, A.
name: Maniv, E.
name: Graf, D.
name: Park, J. -H.
name: Dagan, Y.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Mesoscale and Nanoscale Physics (cond-mat.mes-hall)
subject: Strongly Correlated Electrons (cond-mat.str-el)
subject: Superconductivity (cond-mat.supr-con)
subject: FOS: Physical sciences

description: Resistance as a function of temperature down to 20mK and magnetic fields up to 18T for various carrier concentrations is measured for nanowires made from the SrTiO3/LaAlO3 interface using a hard mask shadow deposition technique. The narrow width of the wires (of the order of 50nm) allows us to separate out the magnetic effects from the dominant superconducting ones at low magnetic fields. At this regime hysteresis loops are observed along with the superconducting transition. From our data analysis we find that the magnetic order probed by the giant magnetoresistance (GMR) effect vanishes at TCurie = 954 mK. This order is not a simple ferromagnetic state but consists of domains with opposite magnetization having a preferred in-plane orientation.
description: 5 pages 5 figures
Genetic Requirements for Signaling from an Autoactive Plant NB-LRR Intracellular Innate Immune Receptor
Creators: name: Dangl, Jeffery L.
name: Tang, Saijun
name: Stallmann, Anna
name: Bonardi, Vera
name: Roberts, Melinda
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Plants react to pathogen attack via recognition of, and response to, pathogen-specific molecules at the cell surface and inside the cell. Pathogen effectors (virulence factors) are monitored by intracellular nucleotide-binding leucine-rich repeat (NB-LRR) sensor proteins in plants and mammals. Here, we study the genetic requirements for defense responses of an autoactive mutant of ADR1-L2, an Arabidopsis coiled-coil (CC)-NB-LRR protein. ADR1-L2 functions upstream of salicylic acid (SA) accumulation in several defense contexts, and it can act in this context as a “helper” to transduce specific microbial activation signals from “sensor” NB-LRRs. This helper activity does not require an intact P-loop. ADR1-L2 and another of two closely related members of this small NB-LRR family are also required for propagation of unregulated runaway cell death (rcd) in an lsd1 mutant. We demonstrate here that, in this particular context, ADR1-L2 function is P-loop dependent. We generated an autoactive missense mutation, ADR1-L2D484V, in a small homology motif termed MHD. Expression of ADR1-L2D848V leads to dwarfed plants that exhibit increased disease resistance and constitutively high SA levels. The morphological phenotype also requires an intact P-loop, suggesting that these ADR1-L2D484V phenotypes reflect canonical activation of this NB-LRR protein. We used ADR1-L2D484V to define genetic requirements for signaling. Signaling from ADR1-L2D484V does not require NADPH oxidase and is negatively regulated by EDS1 and AtMC1. Transcriptional regulation of ADR1-L2D484V is correlated with its phenotypic outputs; these outputs are both SA–dependent and –independent. The genetic requirements for ADR1-L2D484V activity resemble those that regulate an SA–gradient-dependent signal amplification of defense and cell death signaling initially observed in the absence of LSD1. Importantly, ADR1-L2D484V autoactivation signaling is controlled by both EDS1 and SA in separable, but linked pathways. These data allows us to propose a genetic model that provides insight into an SA–dependent feedback regulation loop, which, surprisingly, includes ADR1-L2.
A multilevel Monte Carlo method for computing failure probabilities
Creators: name: Elfverson, Daniel
name: Hellman, Fredrik
name: Målqvist, Axel
Publisher: name: arXiv
Year: 2014
Subjects: subject: Numerical Analysis (math.NA)
subject: FOS: Mathematics

description: We propose and analyze a method for computing failure probabilities of systems modeled as numerical deterministic models (e.g., PDEs) with uncertain input data. A failure occurs when a functional of the solution to the model is below (or above) some critical value. By combining recent results on quantile estimation and the multilevel Monte Carlo method we develop a method which reduces computational cost without loss of accuracy. We show how the computational cost of the method relates to error tolerance of the failure probability. For a wide and common class of problems, the computational cost is asymptotically proportional to solving a single accurate realization of the numerical model, i.e., independent of the number of samples. Significant reductions in computational cost are also observed in numerical experiments.
The cone of minimal weights for mod $p$ Hilbert modular forms
Creators: name: Diamond, Fred
name: Kassaei, Payman L
Publisher: name: arXiv
Year: 2020
Subjects: subject: Number Theory (math.NT)
subject: Algebraic Geometry (math.AG)
subject: FOS: Mathematics
subject: 11F41 (Primary), 11F33, 14G35 (Secondary)

description: We prove that all mod $p$ Hilbert modular forms arise via multiplication by generalized partial Hasse invariants from forms whose weight falls within a certain minimal cone. This answers a question posed by Andreatta and Goren, and generalizes our previous results which treated the case where $p$ is unramified in the totally real field. Whereas our previous work made use of deep Jacquet-Langlands type results on the Goren-Oort stratification (not yet available when $p$ is ramified), here we instead use properties of the stratification at Iwahori level which are more readily generalizable to other Shimura varieties.
description: 17 pages, updated references from v2, published in IMRN (online)
Gunter Pauli, Blue Economy 2.0. 200 progetti implementati, 4 miliardi di dollari investiti, 3 milioni di nuovi posti di lavoro creati
Creators: name: Radogna, Donatella
Publisher: name: TECHNE - Journal of Technology for Architecture and Environment
Year: 2018

description: TECHNE - Journal of Technology for Architecture and Environment, TECHNE 15 (2018): Architectural resilience
Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci
Creators: name: Griffin, Paula J.
name: Adeyemo, Adebowale
name: Wojczynski, Mary K.
name: Papanicolaou, George J.
name: Shriner, Daniel
name: Lange, Leslie
name: Liu, Jiankang
name: Irvin, Marguerite R.
name: Liu, Simin
name: Millikan, Robert C.
name: Haritunians, Talin
name: Chen, Wei-Min
name: Monda, Keri L.
name: Mosley, Thomas H.
name: Ambrosone, Christine B.
name: Sun, Yan V.
name: Ruiz-Narvaez, Edward A.
name: Xue, Luting
name: Demerath, Ellen W.
name: Strom, Sara S.
name: Andrews, Jeanette S.
name: Taylor, Kira C.
name: Henderson, Brian E.
name: Vitolins, Mara Z.
name: Li, Guo
name: Chen, Fang
name: Nalls, Michael A.
name: Yanek, Lisa R.
name: Liu, Ching-Ti
name: Guo, Xiuqing
name: Palmas, Walter
name: Ellis, Jaclyn C.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Central obesity, measured by waist circumference (WC) or waist-hip ratio (WHR), is a marker of body fat distribution. Although obesity disproportionately affects minority populations, few studies have conducted genome-wide association study (GWAS) of fat distribution among those of predominantly African ancestry (AA). We performed GWAS of WC and WHR, adjusted and unadjusted for BMI, in up to 33,591 and 27,350 AA individuals, respectively. We identified loci associated with fat distribution in AA individuals using meta-analyses of GWA results for WC and WHR (stage 1). Overall, 25 SNPs with single genomic control (GC)-corrected p-values<5.0×10−6 were followed-up (stage 2) in AA with WC and with WHR. Additionally, we interrogated genomic regions of previously identified European ancestry (EA) WHR loci among AA. In joint analysis of association results including both Stage 1 and 2 cohorts, 2 SNPs demonstrated association, rs2075064 at LHX2, p = 2.24×10−8 for WC-adjusted-for-BMI, and rs6931262 at RREB1, p = 2.48×10−8 for WHR-adjusted-for-BMI. However, neither signal was genome-wide significant after double GC-correction (LHX2: p = 6.5×10−8; RREB1: p = 5.7×10−8). Six of fourteen previously reported loci for waist in EA populations were significant (p<0.05 divided by the number of independent SNPs within the region) in AA studied here (TBX15-WARS2, GRB14, ADAMTS9, LY86, RSPO3, ITPR2-SSPN). Further, we observed associations with metabolic traits: rs13389219 at GRB14 associated with HDL-cholesterol, triglycerides, and fasting insulin, and rs13060013 at ADAMTS9 with HDL-cholesterol and fasting insulin. Finally, we observed nominal evidence for sexual dimorphism, with stronger results in AA women at the GRB14 locus (p for interaction = 0.02). In conclusion, we identified two suggestive loci associated with fat distribution in AA populations in addition to confirming 6 loci previously identified in populations of EA. These findings reinforce the concept that there are fat distribution loci that are independent of generalized adiposity.
Second ECOOP Workshop on Precise Behavioral Semantics (with an Emphasis on OO Business Specifications)
Creators: name: Kilov, Haim
name: Rumpe, Bernhard
Publisher: name: arXiv
Year: 2014
Subjects: subject: Software Engineering (cs.SE)
subject: FOS: Computer and information sciences

description: Business specifications are essential to describe and understand businesses (and, in particular, business rules) independently of any computing systems used for their possible automation. They have to express this understanding in a clear, precise, and explicit way, in order to act as a common ground between business domain experts and software developers. They also provide the basis for reuse of concepts and constructs ("patterns") common to all - from finance to telecommunications -, or a large number of, businesses, and in doing so save intellectual effort, time and money. Moreover, these patterns substantially ease the elicitation and validation of business specifications during walkthroughs with business customers, and support separation of concerns using viewpoints.
description: 21 pages, 0 figures
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
Creators: name: Bacot, François
name: Soucy, Penny
name: Jakubowska, Anna
name: Wang, Xianshu
name: Domchek, Susan M.
name: Radice, Paolo
name: Friedman, Eitan
name: Kosel, Matthew
name: Dennis, Joe
name: Piedmonte, Marion
name: Healey, Sue
name: Barrowdale, Daniel
name: Sinilnikova, Olga M.
name: Fredericksen, Zachary
name: Vincent, Daniel
name: Lee, Andrew
name: Peock, Susan
name: Neuhausen, Susan L.
name: Dicks, Ed
name: Couch, Fergus J.
name: Lee, Adam
name: Schmutzler, Rita Katharina
name: Gaudet, Mia M.
name: Singer, Christian F.
name: McGuffog, Lesley
name: Thomassen, Mads
name: Kuchenbaecker, Karoline B.
name: Hogervorst, Frans B. L.
name: Hansen, Thomas V. O.
name: Investigators, kConFab
name: Olswold, Curtis
name: Stoppa-Lyonnet, Dominique
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10−8, HR = 1.14, 95% CI: 1.09–1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10−8, HR = 1.27, 95% CI: 1.17–1.38) and 4q32.3 (rs4691139, P = 3.4×10−8, HR = 1.20, 95% CI: 1.17–1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10−4). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%–50% compared to 81%–100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
Filippo Angelucci, Rui Braz Afonso, Michele Di Sivo, Daniela Ladiana, The technological design of resilience landscape. Il progetto tecnologico del paesaggio resiliente
Creators: name: Violano, Antonella
Publisher: name: TECHNE - Journal of Technology for Architecture and Environment
Year: 2018

description: TECHNE - Journal of Technology for Architecture and Environment, TECHNE 15 (2018): Architectural resilience
CausaLM: Causal Model Explanation Through Counterfactual Language Models
Creators: name: Feder, Amir
name: Oved, Nadav
name: Shalit, Uri
name: Reichart, Roi
Publisher: name: arXiv
Year: 2020
Subjects: subject: Computation and Language (cs.CL)
subject: Artificial Intelligence (cs.AI)
subject: Machine Learning (cs.LG)
subject: FOS: Computer and information sciences

description: Understanding predictions made by deep neural networks is notoriously difficult, but also crucial to their dissemination. As all machine learning based methods, they are as good as their training data, and can also capture unwanted biases. While there are tools that can help understand whether such biases exist, they do not distinguish between correlation and causation, and might be ill-suited for text-based models and for reasoning about high level language concepts. A key problem of estimating the causal effect of a concept of interest on a given model is that this estimation requires the generation of counterfactual examples, which is challenging with existing generation technology. To bridge that gap, we propose CausaLM, a framework for producing causal model explanations using counterfactual language representation models. Our approach is based on fine-tuning of deep contextualized embedding models with auxiliary adversarial tasks derived from the causal graph of the problem. Concretely, we show that by carefully choosing auxiliary adversarial pre-training tasks, language representation models such as BERT can effectively learn a counterfactual representation for a given concept of interest, and be used to estimate its true causal effect on model performance. A byproduct of our method is a language representation model that is unaffected by the tested concept, which can be useful in mitigating unwanted bias ingrained in the data.
description: Our code and data are available at: https://amirfeder.github.io/CausaLM/ Accepted for publication in Computational Linguistics journal
Ramsey interferometry through coherent $X^2Σ_g^+ - A^2Π_u - B^2Σ_u^+$ coupling and population transfer in N$^+_2$ air laser
Creators: name: Kuan, Yu-Hung
name: Mu, Xiangxu
name: Miao, Zhiming
name: Liao, Wen-Te
name: Wu, Chengyin
name: Li, Zheng
Publisher: name: arXiv
Year: 2020
Subjects: subject: Atomic Physics (physics.atom-ph)
subject: Chemical Physics (physics.chem-ph)
subject: Optics (physics.optics)
subject: Quantum Physics (quant-ph)
subject: FOS: Physical sciences

description: The laser-like coherent emission at 391nm from N$_2$ gas irradiated by strong 800nm pump laser and weak 400nm seed laser is theoretically investigated. Recent experimental observations are well simulated, including temporal profile, optical gain and periodic modulation of the 391nm signal from N$_2^+$. Our calculation sheds light on the long standing controversy on whether population inversion is indispensable for the optical gain. We demonstrate the Ramsey interference fringes of the emission intensity at 391nm formed by additionally injecting another 800nm pump or 400nm seed, which are well explained by the coherent modulation of transition dipole moment and population between the $A^2Π_u(ν=2)$-$X^2Σ_g^+$ states as well as the $B^2Σ_u^+ (ν=0)$-$X^2Σ_g^+$ states. This study provides versatile possibilities for the coherent control of $\text{N}_2^+$ air laser.
description: 5 pages, 5 figures
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits
Creators: name: Steinthorsdottir, Valgerdur
name: Person, Thomas
name: Liang, Liming
name: Kilpeläinen, Tuomas O.
name: Clegg, Deborah J.
name: Gustafsson, Stefan
name: Croteau-Chonka, Damien C.
name: Min, Josine L.
name: Karpe, Fredrik
name: Randall, Joshua C.
name: Dermitzakis, Emmanouil T.
name: Feitosa, Mary F.
name: Nicholson, George
name: Scherag, Andre
name: Fall, Tove
name: Mägi, Reedik
name: Vedantam, Sailaja
name: Li, Shengxu
name: Kutalik, Zoltán
name: Dimas, Antigone S.
name: Esko, Tõnu
name: Workalemahu, Tsegaselassie
name: Jackson, Anne U.
name: Thorleifsson, Gudmar
name: Monda, Keri L.
name: Ferreira, Teresa
name: Wood, Andrew R.
name: Mathieson, Iain
name: Locke, Adam E.
name: Berndt, Sonja I.
name: Winkler, Thomas W.
name: Day, Felix R.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052 individuals) in a total of 94 studies. Seven loci displayed significant sex-difference (FDR<5%), including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA, ADAMTS9) and three novel anthropometric trait loci (near MAP3K1, HSD17B4, PPARG), all of which were genome-wide significant in women (P<5×10−8), but not in men. Sex-differences were apparent only for waist phenotypes, not for height, weight, BMI, or hip circumference. Moreover, we found no evidence for genetic effects with opposite directions in men versus women. The PPARG locus is of specific interest due to its role in diabetes genetics and therapy. Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.
BRULÈ: Barycenter-Regularized Unsupervised Landmark Extraction
Creators: name: Bespalov, Iaroslav
name: Buzun, Nazar
name: Dylov, Dmitry V.
Publisher: name: arXiv
Year: 2020
Subjects: subject: Computer Vision and Pattern Recognition (cs.CV)
subject: FOS: Computer and information sciences

description: Unsupervised retrieval of image features is vital for many computer vision tasks where the annotation is missing or scarce. In this work, we propose a new unsupervised approach to detect the landmarks in images, validating it on the popular task of human face key-points extraction. The method is based on the idea of auto-encoding the wanted landmarks in the latent space while discarding the non-essential information (and effectively preserving the interpretability). The interpretable latent space representation (the bottleneck containing nothing but the wanted key-points) is achieved by a new two-step regularization approach. The first regularization step evaluates transport distance from a given set of landmarks to some average value (the barycenter by Wasserstein distance). The second regularization step controls deviations from the barycenter by applying random geometric deformations synchronously to the initial image and to the encoded landmarks. We demonstrate the effectiveness of the approach both in unsupervised and semi-supervised training scenarios using 300-W, CelebA, and MAFL datasets. The proposed regularization paradigm is shown to prevent overfitting, and the detection quality is shown to improve beyond the state-of-the-art face models.
description: 10 main pages with 6 figures and 1 Table, 14 pages total with 6 supplementary figures. I.B. and N.B. contributed equally. D.V.D. is corresponding author
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained
Creators: name: Eaton, Charles B.
name: Wu, Ying
name: Stančáková, Alena
name: Sheu, Wayne H-H.
name: Buyske, Steven
name: Dumitrescu, Logan
name: Cheng, Iona
name: Guo, Xiuqing
name: Lee, Wen-Jane
name: Carty, Cara L.
name: Franceschini, Nora
name: Boerwinkle, Eric
name: Narisu, Narisu
name: Robinson, Jennifer G.
name: Henderson, Brian E.
name: Le Marchand, Loic
name: Hindorff, Lucia A.
name: Lingaas-Holmen, Oddgeir
name: Komulainen, Pirjo
name: Lindström, Jaana
name: Schumacher, Fred
name: Kim, Eric
name: Cochran, Barbara
name: Kinnunen, Leena
name: Jackson, Anne U.
name: Absher, Devin
name: Mitchell, Sabrina L.
name: Waite, Lindsay L.
name: Arnett, Donna K.
name: Bonnycastle, Lori L.
name: Croteau-Chonka, Damien C.
name: Lin, Yi
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Genome-wide association studies (GWAS) have identified ∼100 loci associated with blood lipid levels, but much of the trait heritability remains unexplained, and at most loci the identities of the trait-influencing variants remain unknown. We conducted a trans-ethnic fine-mapping study at 18, 22, and 18 GWAS loci on the Metabochip for their association with triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C), respectively, in individuals of African American (n = 6,832), East Asian (n = 9,449), and European (n = 10,829) ancestry. We aimed to identify the variants with strongest association at each locus, identify additional and population-specific signals, refine association signals, and assess the relative significance of previously described functional variants. Among the 58 loci, 33 exhibited evidence of association at P<1×10−4 in at least one ancestry group. Sequential conditional analyses revealed that ten, nine, and four loci in African Americans, Europeans, and East Asians, respectively, exhibited two or more signals. At these loci, accounting for all signals led to a 1.3- to 1.8-fold increase in the explained phenotypic variance compared to the strongest signals. Distinct signals across ancestry groups were identified at PCSK9 and APOA5. Trans-ethnic analyses narrowed the signals to smaller sets of variants at GCKR, PPP1R3B, ABO, LCAT, and ABCA1. Of 27 variants reported previously to have functional effects, 74% exhibited the strongest association at the respective signal. In conclusion, trans-ethnic high-density genotyping and analysis confirm the presence of allelic heterogeneity, allow the identification of population-specific variants, and limit the number of candidate SNPs for functional studies.
Supplementary document for Wearable multifunctional optical sensor based on Er3+/Yb3+ co-doped Gd2O3 nanoparticles and tapered U-shaped fiber - 7327693.pdf
Creators: name: Li, Jingyun
name: Li, Haoyu
name: Long, Zheyu
name: Meng, Lei
name: Guo, Honglian
name: Lv, Min
Publisher: name: Optica Publishing Group
Year: 2025
Subjects: Uncategorized

description: Supplement 1:Methods and Results for Sensing Probe Encapsulation, Strain Testing, and Pulse Monitoring.
D1.1 – Requirements for surgical actions
Creators: name: Oleari, Elettra
name: Trojaniello, Diana
name: Leporini, Alice
name: Umberto Capitanio, MD
name: Federico Dehò, MD
Publisher: name: Zenodo
Year: 2018
Subjects: surgical
robotic surgeon
robot
surgical procedure
risk analysis
clinical requirements

description: The aim of this document is to collect all the clinical and safety requirements of the SARAS surgical benchmark procedures.
 SARAS Deliverable 1.1 is structured as follows: The first part (Chapter 2) is divided into three main sections each one focusing on a specific surgical procedure (i.e. RARP, LRN and LPN), comprehensive of the anatomical site description, clinical details on the pathology and procedural workflow in the current practice carried out at the San Raffaele Hospital (pre-operative preparation, position of patient, surgical instruments chosen, procedure and post-operative course). Particular attention has been paid to the interaction and coordination between the first surgeon – operating at the da Vinci console (only for RARP) – and the assistant; Chapter 3 provides a description of the Risk Analysis performed for each procedure. Being the corresponding task 1.2 due for the second part of the first project year (M7-M12), this study is not included in the current version of D1.1 and will be integrated at M12; Chapter 4 describes the SARAS simplified models of the RARP and LR/PN procedures, suitable to be translated in mathematical terms for the implementation of project solutions; Chapter 5 separates the clinical requirements into two categories: phantoms-related requirements and procedures-related ones; The attached documents (Annexes to Deliverable D1.1) include the appendices which provide further information concerning the researches carried out, but that have not been included in the main part of the text in order to ease the reading of the document.
Modeling of End-Use Energy Profile: An Appliance-Data-Driven Stochastic Approach
Creators: name: Kang, Zhaoyi
name: Jin, Ming
name: Spanos, Costas J.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Applications (stat.AP)
subject: FOS: Computer and information sciences

description: In this paper, the modeling of building end-use energy profile is comprehensively investigated. Top-down and Bottom-up approaches are discussed with a focus on the latter for better integration with occupant information. Compared to the Time-Of-Use (TOU) data used in previous Bottom-up models, this work utilizes high frequency sampled appliance power consumption data from wireless sensor network, and hence builds an appliance-data-driven probability based end-use energy profile model. ON/OFF probabilities of appliances are used in this model, to build a non-homogeneous Markov Chain, compared to the duration statistics based model that is widely used in other works. The simulation results show the capability of the model to capture the diversity and variability of different categories of end-use appliance energy profile, which can further help on the design of a modern robust building power system.
description: accepted to be published in The 40th Annual Conference of the IEEE Industrial Electronics Society, 2014
Hydrochus steineri Perkins
Creators: name: Perkins, Philip D.
Publisher: name: Zenodo
Year: 2021
Subjects: Biodiversity
Taxonomy
Animalia
Arthropoda
Insecta
Coleoptera
Hydrochidae
Hydrochus
Hydrochus steineri

description: Hydrochus steineri Perkins
Figs. 1, 30
Hydrochus steineri Perkins 2020a: 300.
Originally described from Guatemala. Following are new locality data records for Belize, Guatemala and Mexico. Images of the habitus and male genitalia of the holotype, and detailed description of the male genitalia are given in Perkins (2020a).
Material examined (5): Belize: Stann Creek, Kendal; ex side pool of Sittee River at bridge, 1.v.1987, leg. Spangler & Faitoute (1 NMNH). Guatemala: Peten, Parque National El Rosario, E of Sayaxche, elev. 145 m (16°31’26.9’’N, 90°9’36.32’’W), 30.vi.2014, leg. R. S. Zack (3 WSU). Mexico: Tabasco, Teapa, 25.v.1974, leg. M. E. & P. D. Perkins (1 MCZ).
Differential diagnosis. Among Central American species, recognized by the combination of moderate size (ca. 3.29 mm), the densely punctate pronotum with deep foveae, the elytra with strial punctures smaller than interstriae, and the male genitalia. This species has a generalized Hydrochus habitus; reliable determinations will require dissection of males. Among the diagnostic features of the male genitalia are the shape of the adbl, the markedly arcuate dorsal surface of the aedeagus where the adbl and shaft meet, the sinuate aedeagus in lateral view, and especially the markedly sinuate ventral margin of the parameres, in lateral view.
description: Published as part of Perkins, Philip D., 2021, Taxonomy of Central American water beetles in the genus Hydrochus Leach, 1817 (Coleoptera: Hydrochidae), pp. 459-503 in Zootaxa 4974 (3) on page 479, DOI: 10.11646/zootaxa.4974.3.2, http://zenodo.org/record/4777839