搜索结果：European journal of human genetics : EJHG

We compare the network of aggregated journal-journal citation relations provided by the Journal Citation Reports (JCR) 2012 of the Science and Social Science Citation Indexes (SCI and SSCI) with similar data based on Scopus 2012. First, global maps were developed for the two sets separately; sets of documents can then be compared using overlays to both maps. Using fuzzy-string matching and ISSN numbers, we were able to match 10,524 journal names between the two sets; that is, 96.4% of the 10,936 journals contained in JCR or 51.2% of the 20,554 journals covered by Scopus. Network analysis was then pursued on the set of journals shared between the two databases and the two sets of unique journals. Citations among the shared journals are more comprehensively covered in JCR than Scopus, so the network in JCR is denser and more connected than in Scopus. The ranking of shared journals in terms of indegree (that is, numbers of citing journals) or total citations is similar in both databases overall (Spearman's \r{ho} > 0.97), but some individual journals rank very differently. Journals that are unique to Scopus seem to be less important--they are citing shared journals rather than bein

Our society increasingly benefits from Artificial Intelligence (AI). Unfortunately, more and more evidence shows that AI is also used for offensive purposes. Prior works have revealed various examples of use cases in which the deployment of AI can lead to violation of security and privacy objectives. No extant work, however, has been able to draw a holistic picture of the offensive potential of AI. In this SoK paper we seek to lay the ground for a systematic analysis of the heterogeneous capabilities of offensive AI. In particular we (i) account for AI risks to both humans and systems while (ii) consolidating and distilling knowledge from academic literature, expert opinions, industrial venues, as well as laypeople -- all of which being valuable sources of information on offensive AI. To enable alignment of such diverse sources of knowledge, we devise a common set of criteria reflecting essential technological factors related to offensive AI. With the help of such criteria, we systematically analyze: 95 research papers; 38 InfoSec briefings (from, e.g., BlackHat); the responses of a user study (N=549) entailing individuals with diverse backgrounds and expertise; and the opinion of

This study compares publication pattern dynamics in the social sciences and humanities in five European countries. Three are Central and Eastern European countries that share a similar cultural and political heritage (the Czech Republic, Slovakia, and Poland). The other two are Flanders (Belgium) and Norway, representing Western Europe and the Nordics, respectively. We analysed 449,409 publications from 2013-2016 and found that, despite persisting differences between the two groups of countries across all disciplines, publication patterns in the Central and Eastern European countries are becoming more similar to those in their Western and Nordic counterparts. Articles from the Central and Eastern European countries are increasingly published in journals indexed in Web of Science and also in journals with the highest citation impacts. There are, however, clear differences between social science and humanities disciplines, which need to be considered in research evaluation and science policy.

Using the Scopus dataset (1996-2007) a grand matrix of aggregated journal-journal citations was constructed. This matrix can be compared in terms of the network structures with the matrix contained in the Journal Citation Reports (JCR) of the Institute of Scientific Information (ISI). Since the Scopus database contains a larger number of journals and covers also the humanities, one would expect richer maps. However, the matrix is in this case sparser than in the case of the ISI data. This is due to (i) the larger number of journals covered by Scopus and (ii) the historical record of citations older than ten years contained in the ISI database. When the data is highly structured, as in the case of large journals, the maps are comparable, although one may have to vary a threshold (because of the differences in densities). In the case of interdisciplinary journals and journals in the social sciences and humanities, the new database does not add a lot to what is possible with the ISI databases.

Over the last years, the rising capabilities of artificial intelligence (AI) have improved human decision-making in many application areas. Teaming between AI and humans may even lead to complementary team performance (CTP), i.e., a level of performance beyond the ones that can be reached by AI or humans individually. Many researchers have proposed using explainable AI (XAI) to enable humans to rely on AI advice appropriately and thereby reach CTP. However, CTP is rarely demonstrated in previous work as often the focus is on the design of explainability, while a fundamental prerequisite -- the presence of complementarity potential between humans and AI -- is often neglected. Therefore, we focus on the existence of this potential for effective human-AI decision-making. Specifically, we identify information asymmetry as an essential source of complementarity potential, as in many real-world situations, humans have access to different contextual information. By conducting an online experiment, we demonstrate that humans can use such contextual information to adjust the AI's decision, finally resulting in CTP.

This document contains the outcome of the first Human behaviour and machine intelligence (HUMAINT) workshop that took place 5-6 March 2018 in Barcelona, Spain. The workshop was organized in the context of a new research programme at the Centre for Advanced Studies, Joint Research Centre of the European Commission, which focuses on studying the potential impact of artificial intelligence on human behaviour. The workshop gathered an interdisciplinary group of experts to establish the state of the art research in the field and a list of future research challenges to be addressed on the topic of human and machine intelligence, algorithm's potential impact on human cognitive capabilities and decision making, and evaluation and regulation needs. The document is made of short position statements and identification of challenges provided by each expert, and incorporates the result of the discussions carried out during the workshop. In the conclusion section, we provide a list of emerging research topics and strategies to be addressed in the near future.

A number of journal classification systems have been developed in bibliometrics since the launch of the Citation Indices by the Institute of Scientific Information (ISI) in the 1960s. These systems are used to normalize citation counts with respect to field-specific citation patterns. The best known system is the so-called "Web-of-Science Subject Categories" (WCs). In other systems papers are classified by algorithmic solutions. Using the Journal Citation Reports 2014 of the Science Citation Index and the Social Science Citation Index (n of journals = 11,149), we examine options for developing a new system based on journal classifications into subject categories using aggregated journal-journal citation data. Combining routines in VOSviewer and Pajek, a tree-like classification is developed. At each level one can generate a map of science for all the journals subsumed under a category. Nine major fields are distinguished at the top level. Further decomposition of the social sciences is pursued for the sake of example with a focus on journals in information science (LIS) and science studies (STS). The new classification system improves on alternative options by avoiding the problem

In his recent paper published in the European Journal of Scientific Research 44, 4, 610-611 (2010), the author, Arthur Boltcho, claims to have found a mathematical disproof of relative time dilatation of Special Relativity Theory (SRT). In this letter we show that the supposed mathematical disproof of relative time dilatation of SRT is totally wrong and that Arthur Boltcho demonstrated nothing. The errors by Boltcho arise from a strong misunderstanding and confusing the concept of "moments" and time intervals in the framework of SRT.

Current discourse on Artificial Intelligence (AI) ethics, dominated by "trustworthy" and "responsible" AI, overlooks a more fundamental human-computer interaction (HCI) crisis: the erosion of human agency. This paper argues that the primary challenge of high-stakes AI systems is not trust, but the preservation of human causal control. We posit that "bad AI" will function as "bad UI," a metaphor for catastrophic interface failures that misrepresent system state and lead to human error. Applying Marshall McLuhan's media theory, AI can be framed as a technology of "augmentation" that simultaneously "amputates" the user's direct perception of causality. This places the interface as the critical locus where a "double uncertainty"--that of the human user and that of the probabilistic model--must be mediated. We critique current Explainable AI (XAI) for its correlational focus and failure to represent uncertainty. We conclude by proposing a rigorous, nested Causal-Agency Framework (CAF) that integrates causal models, uncertainty quantification, and human-centered evaluation to restore agency at the interface.

Using "Analyze Results" at the Web of Science, one can directly generate overlays onto global journal maps of science. The maps are based on the 10,000+ journals contained in the Journal Citation Reports (JCR) of the Science and Social Science Citation Indices (2011). The disciplinary diversity of the retrieval is measured in terms of Rao-Stirling's "quadratic entropy." Since this indicator of interdisciplinarity is normalized between zero and one, the interdisciplinarity can be compared among document sets and across years, cited or citing. The colors used for the overlays are based on Blondel et al.'s (2008) community-finding algorithms operating on the relations journals included in JCRs. The results can be exported from VOSViewer with different options such as proportional labels, heat maps, or cluster density maps. The maps can also be web-started and/or animated (e.g., using PowerPoint). The "citing" dimension of the aggregated journal-journal citation matrix was found to provide a more comprehensive description than the matrix based on the cited archive. The relations between local and global maps and their different functions in studying the sciences in terms of journal lit

Integrating Large Language Models (LLMs) into business process management tools promises to democratize Business Process Model and Notation (BPMN) modeling for non-experts. While automated frameworks assess syntactic and semantic quality, they miss human factors like trust, usability, and professional alignment. We conducted a mixed-methods evaluation of our proposed solution, an LLM-powered BPMN copilot, with five process modeling experts using focus groups and standardized questionnaires. Our findings reveal a critical tension between acceptable perceived usability (mean CUQ score: 67.2/100) and notably lower trust (mean score: 48.8\%), with reliability rated as the most critical concern (M=1.8/5). Furthermore, we identified output-quality issues, prompting difficulties, and a need for the LLM to ask more in-depth clarifying questions about the process. We envision five use cases ranging from domain-expert support to enterprise quality assurance. We demonstrate the necessity of human-centered evaluation complementing automated benchmarking for LLM modeling agents.

Migrations have played an important role in shaping the genetic diversity of human populations. Understanding genomic data thus requires careful modeling of historical gene flow. Here we consider the effect of relatively recent population structure and gene flow, and interpret genomes of individuals that have ancestry from multiple source populations as mosaics of segments originating from each population. We propose general and tractable models for describing the evolution of these patterns of local ancestry and their impact on genetic diversity. We focus on the length distribution of continuous ancestry tracts, and the variance in total ancestry proportions among individuals. The proposed models offer improved agreement with Wright-Fisher simulation data when compared to state-of-the art models, and can be used to infer various demographic parameters in gene flow models. Considering HapMap African-American (ASW) data, we find that a model with two distinct phases of `European' gene flow significantly improves the modeling of both tract lengths and ancestry variances.

The recent rapid advancement of LLM-based AI systems has accelerated our search and production of information. While the advantages brought by these systems seemingly improve the performance or efficiency of human activities, they do not necessarily enhance human capabilities. Recent research has started to examine the impact of generative AI on individuals' cognitive abilities, especially critical thinking. Based on definitions of critical thinking across psychology and education, this position paper proposes the distinction between demonstrated and performed critical thinking in the era of generative AI and discusses the implication of this distinction in research and development of AI systems that aim to augment human critical thinking.

Human-robot collaboration in surgery represents a significant area of research, driven by the increasing capability of autonomous robotic systems to assist surgeons in complex procedures. This systematic review examines the advancements and persistent challenges in the development of autonomous surgical robotic assistants (ASARs), focusing specifically on scenarios where robots provide meaningful and active support to human surgeons. Adhering to the PRISMA guidelines, a comprehensive literature search was conducted across the IEEE Xplore, Scopus, and Web of Science databases, resulting in the selection of 32 studies for detailed analysis. Two primary collaborative setups were identified: teleoperation-based assistance and direct hands-on interaction. The findings reveal a growing research emphasis on ASARs, with predominant applications currently in endoscope guidance, alongside emerging progress in autonomous tool manipulation. Several key challenges hinder wider adoption, including the alignment of robotic actions with human surgeon preferences, the necessity for procedural awareness within autonomous systems, the establishment of seamless human-robot information exchange, and th

Publication patterns of 79 forest scientists awarded major international forestry prizes during 1990-2010 were compared with the journal classification and ranking promoted as part of the 'Excellence in Research for Australia' (ERA) by the Australian Research Council. The data revealed that these scientists exhibited an elite publication performance during the decade before and two decades following their first major award. An analysis of their 1703 articles in 431 journals revealed substantial differences between the journal choices of these elite scientists and the ERA classification and ranking of journals. Implications from these findings are that additional cross-classifications should be added for many journals, and there should be an adjustment to the ranking of several journals relevant to the ERA Field of Research classified as 0705 Forestry Sciences.

As AI technology continues to advance, the importance of human-AI collaboration becomes increasingly evident, with numerous studies exploring its potential in various fields. One vital field is data science, including feature engineering (FE), where both human ingenuity and AI capabilities play pivotal roles. Despite the existence of AI-generated recommendations for FE, there remains a limited understanding of how to effectively integrate and utilize humans' and AI's knowledge. To address this gap, we design a readily-usable prototype, human\&AI-assisted FE in Jupyter notebooks. It harnesses the strengths of humans and AI to provide feature suggestions to users, seamlessly integrating these recommendations into practical workflows. Using the prototype as a research probe, we conducted an exploratory study to gain valuable insights into data science practitioners' perceptions, usage patterns, and their potential needs when presented with feature suggestions from both humans and AI. Through qualitative analysis, we discovered that the Creator of the feature (i.e., AI or human) significantly influences users' feature selection, and the semantic clarity of the suggested feature gre

The identification and validation of gene-gene interactions is a major challenge in human studies. Here, we explore an approach for studying epistasis in humans using a Drosophila melanogaster model of neonatal diabetes mellitus. Expression of mutant preproinsulin, hINSC96Y, in the eye imaginal disc mimics the human disease activating conserved cell stress response pathways leading to cell death and reduction in eye area. Dominant-acting variants in wild-derived inbred lines from the Drosophila Genetics Reference Panel produce a continuous, highly heritable, distribution of eye degeneration phenotypes. A genome-wide association study (GWAS) in 154 sequenced lines identified 29 candidate SNPs in 16 loci with P < 10-5 including one SNP in an intron of the gene sulfateless (sfl) which exceeded a conservative genome-wide significance threshold of P = 0.05 level (-log10 P > 7.62). RNAi knock-downs of sfl enhanced the eye degeneration phenotype in a mutant-hINS-dependent manner. sfl encodes a protein required for sulfation of the glycosaminoglycan, heparan sulfate. Two additional genes in the heparan sulfate (HS) biosynthetic pathway (tout velu, ttv and brother of tout velu, botv)

Dyads of journals related by citations can agglomerate into specialties through the mechanism of triadic closure. Using the Journal Citation Reports 2011, 2012, and 2013, we analyze triad formation as indicators of integration (specialty growth) and disintegration (restructuring). The strongest integration is found among the large journals that report on studies in different scientific specialties, such as PLoS ONE, Nature Communications, Nature, and Science. This tendency towards large-scale integration has not yet stabilized. Using the Islands algorithm, we also distinguish 51 local maxima of integration. We zoom into the cited articles that carry the integration for: (i) a new development within high-energy physics and (ii) an emerging interface between the journals Applied Mathematical Modeling and the International Journal of Advanced Manufacturing Technology. In the first case, integration is brought about by a specific communication reaching across specialty boundaries, whereas in the second, the dyad of journals indicates an emerging interface between specialties. These results suggest that integration picks up substantive developments at the specialty level. An advantage o

Precision Medicine (PM) transforms the traditional "one-drug-fits-all" paradigm by customising treatments based on individual characteristics, and is an emerging topic for HCI research on digital health. A key element of PM, the Polygenic Risk Score (PRS), uses genetic data to predict an individual's disease risk. Despite its potential, PRS faces barriers to adoption, such as data inclusivity, psychological impact, and public trust. We conducted a mixed-methods study to explore how people perceive PRS, formed of surveys (n=254) and interviews (n=11) with UK-based participants. The interviews were supplemented by interactive storyboards with the ContraVision technique to provoke deeper reflection and discussion. We identified ten key barriers and five themes to PRS adoption and proposed design implications for a responsible PRS framework. To address the complexities of PRS and enhance broader PM practices, we introduce the term Human-Precision Medicine Interaction (HPMI), which integrates, adapts, and extends HCI approaches to better meet these challenges.