Conservation screening curves to compare efficiency investments topower plants: Applications to commercial sector conservationprograms

This paper describes a simplified methodology to compare supply and demand-side resources. The screening curve approach supplements with load shape information the data contained in a supply curve of conserved energy. In addition, a screening curve contains information on competing supply technologies, such as annualized capital costs, variable costs, and cost per delivered kWh. The information in the screening curve allows policymakers to promptly and conveniently compare the relevant parameters affecting supply and demand-side investment decisions. While many sophisticated computer models have evolved to account for the load shape impacts of energy efficiency investments, this sophistication has, by and large, not trickled down to spreadsheet-level or 'back-of-the-envelope' analyses. Our methodology allows a simple summary of load shape characteristics based on the output of the more complicated models. It offers many advantages, principal of which is clarity in analyzing supply and demand-side investment choices. This paper first describes how supply-side screening curves have been used in the past, and develops the conceptual tools needed to apply integrated supply/demand screening curves in the least-cost utility planning process. It then presents examples of supply-side technologies and commercial sector demand-side management programs, and plots them on representative screening curves

STUDY OF RESONANCES IN THE Σ-π SYSTEM

In order to study resonances in the {Sigma}-{pi} system, we have analyzed reactions in which a {Sigma} hyperon and two or three pions are produced in K{sup -}-p interactions at 1.22 {+-} 0.040 and 1.51 {+-} 0.050 GeV/c incident K{sup -} momentum (i. e., 1895 and 2025 MeV center-of-mass energy), using the Lawrence Radiation Laboratory's 72-in. hydrogen bubble chamber

Global Cooling: Increasing World-Wide Urban Albedos to Offset CO2

Modification of urban albedos reduces summertime urban temperatures, resulting in a better urban air quality and building air-conditioning savings. Furthermore, increasing urban albedos has the added benefit of reflecting some of the incoming global solar radiation and countering to some extent the effects of global warming. In many urban areas, pavements and roofs constitute over 60% of urban surfaces (roof 20-25%, pavements about 40%). Using reflective materials, both roof and the pavement albedos can be increased by about 0.25 and 0.10, respectively, resulting in a net albedo increase for urban areas of about 0.1. Many studies have demonstrated building cooling-energy savings in excess of 20% upon raising roof reflectivity from an existing 10-20% to about 60% (a U.S. potential savings in excess of $1 billion (B) per year in net annual energy bills). On a global basis, our preliminary estimate is that increasing the world-wide albedos of urban roofs and paved surfaces will induce a negative radiative forcing on the earth equivalent to removing {approx} 22-40 Gt of CO{sub 2} from the atmosphere. Since, 55$25/tonne of CO{sub 2}, a 40-73 Gt CO{sub 2} emission reduction from changing the albedo of roofs and paved surfaces is worth about $1,000B to 1800B. These estimated savings are dependent on assumptions used in this study, but nevertheless demonstrate considerable benefits that may be obtained from cooler roofs and pavements

Lessons learned from additional research analyses of unsolved clinical exome cases

BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease. Pilot project data included 74 families, consisting mostly of parent-offspring trios. Analyses performed on a research basis employed both WES from additional family members and complementary bioinformatics approaches and protocols. RESULTS: Analysis of all possible modes of Mendelian inheritance, focusing on both single nucleotide variants (SNV) and copy number variant (CNV) alleles, yielded a likely contributory variant in 36% (27/74) of cases. If one includes candidate genes with variants identified within a single family, a potential contributory variant was identified in a total of ~51% (38/74) of cases enrolled in this pilot study. The molecular diagnosis was achieved in 30/63 trios (47.6%). Besides this, the analysis workflow yielded evidence for pathogenic variants in disease-associated genes in 4/6 singleton cases (66.6%), 1/1 multiplex family involving three affected siblings, and 3/4 (75%) quartet families. Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed recent disease gene discoveries (PURA, TANGO2, EMC1, GNB5, ATAD3A, and MIPEP) and increased the number of novel genes, defined in this study as genes identified in more than one family (DHX30 and EBF3). CONCLUSION: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders. Implementing these approaches requires collaborative clinical molecular diagnostic and research efforts

SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Pathogenic de novo variants in the Xâ linked gene SLC35A2 encoding the major Golgiâ localized UDPâ galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2â congenital disorders of glycosylation (CDG; formerly CDGâ IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin Nâ glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2â CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2â dependent UDPâ galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wildâ type to mutant alleles in fibroblasts from affected individuals.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/1/humu23731_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/2/humu23731-sup-0001-Supp_Mat__2019.2.10_.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/3/humu23731.pd