23 research outputs found

    How Does Exploring Self and Peer-Identity Through Artmaking Strengthen Student-Peer Relationships?

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    This arts-based action research study was created to examine the effects of artmaking on the development of student-peer relationships. Conducted through a four month analysis, 25 fifth grade students, from the same class, were examined through survey questionnaire, critique and interpretation process. Through the course of this study, this research investigation will study 10 randomly selected students, from the same class of inquiry, to examine their artistic process in relation to the development or strengthening of student-peer relationships. From the 10 focal participants, I analyzed sketchbook documentation, artwork with written description, and recorded semi structured interviews. This study will explore the layered process of artmaking in connection to the development of student-peer interactions. The foundational question of this study is: How does exploring self and peer-identity through artmaking strengthen student-peer relationships? Data collected consisted of self-identity research documented in sketchbooks, symbolic self-portraits accompanied with a written description, pre and post survey and questionnaire, critique and interpretation followed by a semi-structured interview. Furthermore, this study will contribute to the numerous methods of building and strengthening relationships in the attempt to improve classroom communities

    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 ‚ąľ99% of the euchromatic genome and is accurate to an error rate of ‚ąľ1 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

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

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    Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

    Observation of gravitational waves from the coalescence of a 2.5‚ąí4.5 M‚äô compact object and a neutron star