23 research outputs found

    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

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    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

    Dictator Games: A Meta Study

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    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∌99% of the euchromatic genome and is accurate to an error rate of ∌1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    TRY plant trait database – enhanced coverage and open access

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    Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

    A literature review of the effects of computer input device design on biomechanical loading and musculoskeletal outcomes during computer work

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    BACKGROUND: Extended use of conventional computer input devices is associated with negative musculoskeletal outcomes. While many alternative designs have been proposed, it is unclear whether these devices reduce biomechanical loading and musculoskeletal outcomes. OBJECTIVE:To review studies describing and evaluating the biomechanical loading and musculoskeletal outcomes associated with conventional and alternative input devices. METHODS: Included studies evaluated biomechanical loading and/or musculoskeletal outcomes of users’ distal or proximal upper extremity regions associated with the operation of alternative input devices (pointing devices, mice, other devices) that could be used in a desktop personal computing environment during typical office work. RESULTS:Some alternative pointing device designs (e.g. rollerbar) were consistently associated with decreased biomechanical loading while other designs had inconsistent results across studies. Most alternative keyboards evaluated in the literature reduce biomechanical loading and musculoskeletal outcomes. Studies of other input devices (e.g. touchscreen and gestural controls) were rare, however, those reported to date indicate that these devices are currently unsuitable as replacements for traditional devices. CONCLUSIONS: Alternative input devices that reduce biomechanical loading may make better choices for preventing or alleviating musculoskeletal outcomes during computer use, however, it is unclear whether many existing designs are effective

    The effects of psychosocial factors on trapezius muscle activity levels during computer use

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    The goal of the present study, a part of the PROOF (Predicting Occupational biomechanics among OFfice workers) study, was to determine if there was a relationship between psychosocial stress, measured by reward and over-commitment, and trapezius muscle activity while workers performed their own computer work in the field. We observed that workers reporting higher levels of over-commitment and lower reward also experienced approximately 40% higher median trapeizus muscle activity levels than workers reporting lower levels of over-commitment and lower reward (change from 3.5% MVC to 6% MVC), with no difference in muscle activity for workers reporting high reward and either low or high overcommitment. Workers reporting higher levels of over-commitment experienced more variability in trapezius muscle activity. The results of this study may be used to inform interventions targeting reduction of musculoskeletal disorders among office workers
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