40 research outputs found

    Geometry of Jump Systems

    Get PDF
    A jump system is a set of lattice points satisfying a certain two-step axiom. We present a variety of results concerning the geometry of these objects, including a characterization of two-dimensional jump systems, necessary (though not sufficient) properties of higher-dimensional jump systems, and a characterization of constant-sum jump systems

    Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

    Get PDF
    The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition

    Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

    Get PDF
    The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

    No full text
    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

    Two-Phase Refrigerant Distribution in a Micro-Channel Manifold

    Get PDF

    The Evolving Business Policies Course--Is Management Gaming the Logical Pedagogy?

    No full text
    The business policies course, in terms of both content and pedagogy, is undergoing dramatic changes. Many of those changes have received little attention in the literature and yet these changes clearly affect the quality of the business policies course. The panel reviewed their experience in the use of management games in teaching business policies with the following pedagogy: a course which divides the emphasis between case study and half game participation (Bob Mclntire), the use of management games over multiple sections with emphasis on intercollegiate competition (Chad Pierson), a case study course designed to emphasize experiential learning with the interaction game, Boss, as the primary vehicle (Precha Thavikulwat), and the use of a complex game (Topexec) for the total business policies course (Bill Newell)

    An international consensus definition for contextual factors: findings from a nominal group technique

    No full text
    Objective: Emerging literature suggests contextual factors are important components of therapeutic encounters and may substantially influence clinical outcomes of a treatment intervention. At present, a single consensus definition of contextual factors, which is universal across all health-related conditions is lacking. The objective of this study was to create a consensus definition of contextual factors to better refine this concept for clinicians and researchers. Design: The study used a multi-stage virtual Nominal Group Technique (vNGT) to create and rank contextual factor definitions. Nominal group techniques are a form of consensus-based research, and are beneficial for identifying problems, exploring solutions and establishing priorities. Setting: International. Main outcome measures: The initial stages of the vNGT resulted in the creation of 14 independent contextual factor definitions. After a prolonged discussion period, the initial definitions were heavily modified, and 12 final definitions were rank ordered by the vNGT participants from first to last. Participants: The 10 international vNGT participants had a variety of clinical backgrounds and research specializations and were all specialists in contextual factors research. Results: A sixth round was used to identify a final consensus, which reflected the complexity of contextual factors and included three primary domains: (1) an overall definition; (2) qualifiers that serve as examples of the key areas of the definition; and (3) how contextual factors may influence clinical outcomes. Conclusion: Our consensus definition of contextual factors seeks to improve the understanding and communication between clinicians and researchers. These are especially important in recognizing their potential role in moderating and/or mediating clinical outcomes

    Validation of Fistula Risk Score calculator in diverse North American HPB practices.

    No full text
    BACKGROUND: Fistula Risk Score (FRS) is a previously developed tool to assess the risk of clinically relevant postoperative pancreatic fistula (CR-POPF) following pancreatoduodenectomy (PD). METHODS: Prospectively collected databases from 4 university affiliated and non-affiliated HPB centers in United States and Canada were used. The influence of individual baseline characteristics, FRS and FRS group on CR-POPF was assessed in univariate and multivariate analyses. FRS calculator performance was assessed using a C-statistic. RESULTS: 444 patients were identified. Pathology, soft pancreas texture and pancreatic duct size were associated with CR-POPF rates (p \u3c 0.001 for each); EBL was not (p = 0.067). The negligible risk group consisted of 50 (11.3%) patients, low risk of 118 (26.6%), moderate 234 (52.7%) and high risk group of 42 (9.5%) patients. The overall rate of CR-POPF was 20%. Of the patients in the negligible risk group, 2% developed CR-POPF, 13.6% of the low risk, 23.1% moderate and 42.9% in the high risk group (p \u3c 0.001). Overall C-statistic was 0.719. CONCLUSION: FRS is robust and able to stratify the risk of developing CR-POPF following PD in diverse North American academic and non-academic institutions. The FRS should be used in research and to guide clinical management of patients post PD in these institutions
    corecore