The Type 2 Diabetes Knowledge Portal: an open access genetic resource dedicated to type 2 diabetes and related traits

Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits. Here, we seek to make the T2DKP more accessible to prospective users and more useful to existing users. First, we evaluate the T2DKP's comprehensiveness by comparing its datasets with those of other repositories. Second, we describe how researchers unfamiliar with human genetic data can begin using and correctly interpreting them via the T2DKP. Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We finally discuss the lessons offered by the T2DKP toward the goal of democratizing access to complex disease genetic results

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants

Geobiology of a lower Cambrian carbonate platform, Pedroche Formation, Ossa Morena Zone, Spain

The Cambrian Pedroche Formation comprises a mixed siliciclastic-carbonate succession recording subtidal deposition on a marine platform. Carbonate carbon isotope chemostratigraphy confirms previous biostratigraphic assignment of the Pedroche Formation to the Atdabanian regional stage of Siberia, correlative to Cambrian Series 2. At the outcrop scale, thrombolitic facies comprise ~. 60% of carbonate-normalized stratigraphy and coated-grains another ~. 10%. Petrographic point counts reveal that skeletons contribute at most 20% to thrombolitic inter-reef and reef-flank lithologies; on average, archaeocyath clasts make up 68% of skeletal materials. In contrast, petrographic point counts show that skeletons comprise a negligible volume of biohermal and biostromal thrombolite, associated nodular carbonate facies, and ooid, oncoid and peloid grainstone facies. As such, archaeocyathan reefal bioconstructions represent a specific and limited locus of skeletal carbonate production and deposition. Consistent with data from coeval, globally dispersed lower Cambrian successions, our analysis of the Pedroche Formation supports the view that lower Cambrian carbonates have more in common with earlier, Neoproterozoic deposits than with younger carbonates dominated by skeletal production and accumulation. © 2013 Elsevier B.V.Jessica R. Creveling, David Fernández-Remolar, Marta Rodríguez-Martínez, Silvia Menéndez, Kristin D. Bergmann, Benjamin C. Gill, John Abelson, Ricardo Amils, Bethany L. Ehlmann, Diego C. García-Bellido, John P. Grotzinger, Christian Hallmann, Kathryn M. Stack, Andrew H. Knol

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias

Energy Management at Steelcase- Energy Integrated with Facilities

Our plant assigned and central engineers are encouraged to design each project with energy efficiency and cost as important objectives. It is their contribution to the process of problem solving, renovation, equipment installation, and construction. Recommendations are expected. The hands-on engineer is in the best position to provide successful energy projects because of system and personnel familiarity and ownership. Our organization provides communication to all involved: management, production, maintenance, and plant engineering (plant and central) staff. The central specialists support the effort with computerization, energy information, and coordination. Some competition is encouraged by individually reporting project successes

Steelcase Closed Loop Energy Recovery System - What We Have Learned With Our Operation

Energy cost increases, future shortages, and environmental concerns are making it less attractive to landfill our fuel concentrated wastes. Our 2,000 #/hr modular waste burning incinerator has operated since July, 1980. To provide an understanding of the complex system relationships, I will outline briefly the components of the system that require management control. The organization can be viewed as a spoked wheel. The incinerator is the hub, the spokes are people, combustion process, waste stream, system residue, records and performance evaluation. Training and supervision are necessary consistently for the personnel who operate equipment, haul type 'O' waste, haul paint filters, transport paint residue, perform maintenance, keep records, etc. The fuel stream is not consistent complicating the combustion control process. A communication network is necessary to avoid waste/fuel contamination and to encourage interest in overall system efficiency. To achieve maximum potential, a comprehensive management system must be developed to set priorities, communicate and coordinate all related system factors

Energy Management Without a Staff

Our area assigned and central engineers are encouraged to design each project with energy efficiency and cost as important objectives. It is their contribution to the process of problem solving, renovation, equipment installation, and construction. Recommendations are expected. The hands-on engineer is in the best position to provide successful energy projects because of system and personnel familiarity and ownership. Our organization provides communication to all involved; management, production, maintenance and plant engineering (area and central) staff. The central specialists support the effort with computerization specialists, energy information, and coordination. Some competition is encouraged by individually reporting project successes