4 research outputs found

    Ada as a design specification language

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    The primary thesis objective is research into current approaches to design specification languages, emphasizing Ada. Requirements specification is touched upon. Design specification is explored and related to requirements and implementation. The role of language in design is discussed, as well as objectives of the design specification and features that a specification language should provide in order to meet those objectives. Formal language is contrasted with natural language. Some formal specification languages are described, both Ada related and not Ada related. The secondary objective, the thesis project, is to illustrate a design specification in a formal language, Ada. The purpose of the project is to compare the Ada expression of an example design with the natural language specification for the same system

    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

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    Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10(-8) to P = 10(-190)). We used functional genomic approaches including metabonomic profiling and gene expression analyses to identify probable candidate genes at these regions. We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827). Our results provide new insight into genetic mechanisms and pathways influencing markers of liver function

    Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

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