University of Exeter

About: University of Exeter is a education organization based out in Exeter, United Kingdom. It is known for research contribution in the topics: Population & Context (language use). The organization has 15820 authors who have published 50650 publications receiving 1793046 citations. The organization is also known as: Exeter University & University of the South West of England.

Principled Artificial Intelligence: Mapping Consensus in Ethical and Rights-based Approaches to Principles for AI

Abstract: The rapid spread of artificial intelligence (AI) systems has precipitated a rise in ethical and human rights-based frameworks intended to guide the development and use of these technologies. Despite the proliferation of these "AI principles," there has been little scholarly focus on understanding these efforts either individually or as contextualized within an expanding universe of principles with discernible trends. To that end, this white paper and its associated data visualization compare the contents of thirty-six prominent AI principles documents side-by-side. This effort uncovered a growing consensus around eight key thematic trends: privacy, accountability, safety and security, transparency and explainability, fairness and non-discrimination, human control of technology, professional responsibility, and promotion of human values. Underlying this “normative core,” our analysis examined the forty-seven individual principles that make up the themes, detailing notable similarities and differences in interpretation found across the documents. In sharing these observations, it is our hope that policymakers, advocates, scholars, and others working to maximize the benefits and minimize the harms of AI will be better positioned to build on existing efforts and to push the fractured, global conversation on the future of AI toward consensus.

Mutations in hepatocyte nuclear factor‐1β and their related phenotypes

Abstract: Background: Hepatocyte nuclear factor-1 beta (HNF-1β) is a widely distributed transcription factor which plays a critical role in embryonic development of the kidney, pancreas, liver, and Mullerian duct. Thirty HNF-1β mutations have been reported in patients with renal cysts and other renal developmental disorders, young-onset diabetes, pancreatic atrophy, abnormal liver function tests, and genital tract abnormalities. Methods: We sequenced the HNF-1β gene in 160 unrelated subjects with renal disease, 40% of whom had a personal/family history of diabetes. Results: Twenty three different heterozygous HNF-1β mutations were identified in 23/160 subjects (14%), including 10 novel mutations (V61G, V110G, S148L, K156E, Q176X, R276Q, S281fsinsC, R295P, H324fsdelCA, Q470X). Seven (30%) cases were proven to be due to de novo mutations. Renal cysts were found in 19/23 (83%) patients (four with glomerulocystic kidney disease, GCKD) and diabetes in 11/23 (48%, while three other families had a family history of diabetes. Only 26% of families met diagnostic criteria for maturity-onset diabetes of the young (MODY) but 39% had renal cysts and diabetes (RCAD). We found no clear genotype/phenotype relationships. Conclusion: We report the largest series to date of HNF-1β mutations and confirm HNF-1β mutations as an important cause of renal disease. Despite the original description of HNF-1β as a MODY gene, a personal/family history of diabetes is often absent and the most common clinical manifestation is renal cysts. Molecular genetic testing for HNF-1β mutations should be considered in patients with unexplained renal cysts (including GCKD), especially when associated with diabetes, early-onset gout, or uterine abnormalities.

The Rare Earth Elements: demand, global resources, and challenges for resourcing future generations

Abstract: The rare earth elements (REE) have attracted much attention in recent years, being viewed as critical metals because of China’s domination of their supply chain. This is despite the fact that REE enrichments are known to exist in a wide range of settings, and have been the subject of much recent exploration. Although the REE are often referred to as a single group, in practice each individual element has a specific set of end-uses, and so demand varies between them. Future demand growth to 2026 is likely to be mainly linked to the use of NdFeB magnets, particularly in hybrid and electric vehicles and wind turbines, and in erbium-doped glass fiber for communications. Supply of lanthanum and cerium is forecast to exceed demand. There are several different types of natural (primary) REE resources, including those formed by high-temperature geological processes (carbonatites, alkaline rocks, vein and skarn deposits) and those formed by low-temperature processes (placers, laterites, bauxites and ion-adsorption clays). In this paper, we consider the balance of the individual REE in each deposit type and how that matches demand, and look at some of the issues associated with developing these deposits. This assessment and overview indicate that while each type of REE deposit has different advantages and disadvantages, light rare earth-enriched ion adsorption types appear to have the best match to future REE needs. Production of REE as by-products from, for example, bauxite or phosphate, is potentially the most rapid way to produce additional REE. There are still significant technical and economic challenges to be overcome to create substantial REE supply chains outside China.

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Abstract: We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk-associated loci. We make two important observations. First, only five of these signals are driven by low-frequency variants: even for these, effect sizes are modest (odds ratio ≤1.29). Second, when we used large-scale genome-wide association data to fine-map the associated variants in their regional context, accounting for the global enrichment of complex trait associations in coding sequence, compelling evidence for coding variant causality was obtained for only 16 signals. At 13 others, the associated coding variants clearly represent ‘false leads’ with potential to generate erroneous mechanistic inference. Coding variant associations offer a direct route to biological insight for complex diseases and identification of validated therapeutic targets; however, appropriate mechanistic inference requires careful specification of their causal contribution to disease predisposition.

Minimum information about an uncultivated virus genome (MIUVIG)

Abstract: We present an extension of the Minimum Information about any (x) Sequence (MIxS) standard for reporting sequences of uncultivated virus genomes. Minimum Information about an Uncultivated Virus Genome (MIUViG) standards were developed within the Genomic Standards Consortium framework and include virus origin, genome quality, genome annotation, taxonomic classification, biogeographic distribution and in silico host prediction. Community-wide adoption of MIUViG standards, which complement the Minimum Information about a Single Amplified Genome (MISAG) and Metagenome-Assembled Genome (MIMAG) standards for uncultivated bacteria and archaea, will improve the reporting of uncultivated virus genomes in public databases. In turn, this should enable more robust comparative studies and a systematic exploration of the global virosphere.