376 research outputs found
DEFLATE compression algorithm corrects for overestimation of phylogenetic diversity by Grantham approach to single-nucleotide polymorphism classification.
Improvements in speed and cost of genome sequencing are resulting in increasing numbers of novel non-synonymous single nucleotide polymorphisms (nsSNPs) in genes known to be associated with disease. The large number of nsSNPs makes laboratory-based classification infeasible and familial co-segregation with disease is not always possible. In-silico methods for classification or triage are thus utilised. A popular tool based on multiple-species sequence alignments (MSAs) and work by Grantham, Align-GVGD, has been shown to underestimate deleterious effects, particularly as sequence numbers increase. We utilised the DEFLATE compression algorithm to account for expected variation across a number of species. With the adjusted Grantham measure we derived a means of quantitatively clustering known neutral and deleterious nsSNPs from the same gene; this was then used to assign novel variants to the most appropriate cluster as a means of binary classification. Scaling of clusters allows for inter-gene comparison of variants through a single pathogenicity score. The approach improves upon the classification accuracy of Align-GVGD while correcting for sensitivity to large MSAs. Open-source code and a web server are made available at https://github.com/aschlosberg/CompressGV
Justice at Sea: Fishers’ politics and marine conservation in coastal Odisha, India
This is a paper about the politics of fishing rights in and around the Gahirmatha marine sanctuary in coastal Odisha, in eastern India. Claims to the resources of this sanctuary are politicised through the creation of a particularly damaging narrative by influential Odiya environmental actors about Bengalis, as illegal immigrants who have hurt the ecosystem through their fishing practices. Anchored within a theoretical framework of justice as recognition, the paper considers the making of a regional Odiya environmentalism that is, potentially, deeply exclusionary. It details how an argument about ‘illegal Bengalis’ depriving ‘indigenous Odiyas’ of their legitimate ‘traditional fishing rights’ derives from particular notions of indigeneity and territory. But the paper also shows that such environmentalism is tenuous, and fits uneasily with the everyday social landscape of fishing in coastal Odisha. It concludes that a wider class conflict between small fishers and the state over a sanctuary sets the context in which questions about legitimate resource rights are raised, sometimes with important effects, like when out at sea
REDD+ on the rocks? Conflict over forest and politics of justice in Vietnam
In Vietnam, villagers involved in a REDD+ (reduced emissions from deforestation and forest degradation) pilot protect areas with rocks which have barely a tree on them. The apparent paradox indicates how actual practices differ from general ideas about REDD+ due to ongoing conflict over forest, and how contestations over the meaning of justice are a core element in negotiations over REDD+. We explore these politics of justice by examining how the actors involved in the REDD+ pilot negotiate the particular subjects, dimensions, and authority of justice considered relevant, and show how politics of justice are implicit to practical decisions in project implementation. Contestations over the meaning of justice are an important element in the practices and processes constituting REDD+ at global, national and local levels, challenging uniform definitions of forest justice and how forests ought to be managed
Justice Through a Multispecies Lens
The bushfires in Australia during the Summer of 2019–2020, in the midst of which we were writing this exchange, violently heightened the urgency of the task of rethinking justice through a multispecies lens for all of the authors in this exchange, and no doubt many of its readers. As I finish this introduction, still in the middle of the Australian summer, more than 10 million hectares (100,000 km2 or 24.7 million acres) of bushland have been burned and over a billion individual animals killed. This says nothing of the others who will die because their habitat and the relationships on which they depend no longer exist. People all around the world are mourning these deaths and the destruction of unique ecosystems. As humans on this planet, and specifically as political theorists facing the prospect that such devastating events will only become more frequent, the question before us is whether we can rethink what it means to be in ethical relationships with beings other than humans and what justice requires, in ways that mark these deaths as absolute wrongs that obligate us to act, and not simply as unfortunate tragedies that leave us bereft
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Bayesian approach to determining penetrance of pathogenic SDH variants.
BACKGROUND: Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in that population frequencies of pathogenic germline variants should be inversely proportional to their penetrance for disease. We tested this hypothesis using data from two cohorts for succinate dehydrogenase subunits A, B and C (SDHA-C) genetic variants associated with hereditary pheochromocytoma/paraganglioma (PC/PGL). METHODS: Two cohorts were 575 unrelated Australian subjects and 1240 unrelated UK subjects, respectively, with PC/PGL in whom genetic testing had been performed. Penetrance of pathogenic SDHA-C variants was calculated by comparing allelic frequencies in cases versus controls from ExAC (removing those variants contributed by The Cancer Genome Atlas). RESULTS: Pathogenic SDHA-C variants were identified in 106 subjects (18.4%) in cohort 1 and 317 subjects (25.6%) in cohort 2. Of 94 different pathogenic variants from both cohorts (seven in SDHA, 75 in SDHB and 12 in SDHC), 13 are reported in ExAC (two in SDHA, nine in SDHB and two in SDHC) accounting for 21% of subjects with SDHA-C variants. Combining data from both cohorts, estimated lifetime disease penetrance was 22.0% (95% CI 15.2% to 30.9%) for SDHB variants, 8.3% (95% CI 3.5% to 18.5%) for SDHC variants and 1.7% (95% CI 0.8% to 3.8%) for SDHA variants. CONCLUSION: Pathogenic variants in SDHB are more penetrant than those in SDHC and SDHA. Our findings have important implications for counselling and surveillance of subjects carrying these pathogenic variants
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From silence to primary definer: The rise of the Intelligence lobby in the public sphere
Until the end of the Cold War the UK intelligence services were not officially acknowledged, and their personnel were banned from entering the public sphere. From 1989 the UK government began to put the intelligence services on a legal footing and to release the identity of the heads of the intelligence agencies. Since then, public engagement by the intelligence agencies has gathered pace. What this article hypothesises is that there is now, in the UK, an effective intelligence lobby of former insiders who engage in the public sphere – using on the record briefings – to counter criticism of the intelligence community and to promote a narrative and vision of what UK intelligence should do, how it is supported and how oversight is conducted. Content analysis and framing models of non-broadcast coverage of intelligence debates, focusing on the 36 months after the Snowden revelations, confirm an active and rolling lobby of current and former intelligence officials. The paper concludes that the extent of the lobby’s interventions in the public sphere is a matter for debate and possible concern
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