| 1. |
- Brownstein, Catherine A., et al.
(författare)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 2. |
- DeZutter, Stacy Lee, et al.
(författare)
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Collaborative commentary : how do teachers support children as citizens?
- 2023
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Ingår i: International perspectives on educating for democracy in early childhood. - New York : Routledge. - 9781032135007 - 9781032135014 - 9781000865769 - 9781003229568 ; , s. 321-323
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Bokkapitel (refereegranskat)abstract
- This commentary traces shared themes across the six chapters of Part III of this volume. The examples of classroom practice presented in this part highlight the important role of critical dialogue and inclusive practices as foundations of global citizenship education. When classroom conversations engage students with big ideas and interrogate structural privilege and when they recognize and welcome all perspectives, children experience citizenship that works toward justice, sustainability, and democracy. Examples from the chapters also suggest that prevailing societal attitudes about children's competence may work against efforts to help children recognize their agency within classrooms. Implications for teacher preparation and future research are discussed.
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| 3. |
- Forest, Felix, et al.
(författare)
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Gymnosperms on the EDGE
- 2018
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Driven by limited resources and a sense of urgency, the prioritization of species for conservation has been a persistent concern in conservation science. Gymnosperms (comprising ginkgo, conifers, cycads, and gnetophytes) are one of the most threatened groups of living organisms, with 40% of the species at high risk of extinction, about twice as many as the most recent estimates for all plants (i.e. 21.4%). This high proportion of species facing extinction highlights the urgent action required to secure their future through an objective prioritization approach. The Evolutionary Distinct and Globally Endangered (EDGE) method rapidly ranks species based on their evolutionary distinctiveness and the extinction risks they face. EDGE is applied to gymnosperms using a phylogenetic tree comprising DNA sequence data for 85% of gymnosperm species (923 out of 1090 species), to which the 167 missing species were added, and IUCN Red List assessments available for 92% of species. The effect of different extinction probability transformations and the handling of IUCN data deficient species on the resulting rankings is investigated. Although top entries in our ranking comprise species that were expected to score well (e.g. Wollemia nobilis, Ginkgo biloba), many were unexpected (e.g. Araucaria araucana). These results highlight the necessity of using approaches that integrate evolutionary information in conservation science.
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| 4. |
- Imms, Christine, et al.
(författare)
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Optimising leisure participation : a pilot intervention study for adolescents with physical impairments
- 2016
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Ingår i: Disability and Rehabilitation. - : TAYLOR & FRANCIS LTD. - 0963-8288 .- 1464-5165. ; 38:10, s. 963-971
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To assess the feasibility of an intervention to improve participation in leisure activities of adolescents with physical impairments by changing aspects of the activity or environment. Methods: A pre-test/post-test pilot study of a multi-strategy intervention was used to explore the effectiveness of the strategies and to determine whether the intervention was practical to apply in a community setting. The intervention involved establishing adolescent and family focused goals, measuring and addressing environmental barriers and building activity performance skills. The Goal Attainment Scale (GAS) and the Canadian Occupational Performance Measure measured outcomes. Results: Eight participants (aged 12-19 years; five males) with physical disabilities set participation goals using a structured approach. Analysis of personal and environmental barriers and facilitators for participation guided the choice of intervention strategies to support goal attainment. The natural environment, government policies and availability of transport were identified as the most frequent barriers to participation in leisure. Support to secure appropriate devices to enable participation was commonly required. As a group, attainment of 12 of 17 GAS goals, and progress on four more goals, was demonstrated. Conclusions: The intervention model was applicable and practical to use in a community therapy setting and the majority of the participation goals set were achieved.Implications for RehabilitationThis ICF-based intervention model was applicable and practical to use in a community therapy setting.The majority of the adolescent's leisure participation goals were achieved following engagement in the multi-strategy intervention.Adolescents with sufficient communication skills (CFCS Levels I-III) benefited from a group-based intervention in addition to individualised support.
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| 5. |
- Li, Fay-Wei, et al.
(författare)
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Horizontal transfer of an adaptive chimeric photoreceptor from bryophytes to ferns
- 2014
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 111:18, s. 6672-6677
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Tidskriftsartikel (refereegranskat)abstract
- Ferns are well known for their shade-dwelling habits. Their ability to thrive under low-light conditions has been linked to the evolution of a novel chimeric photoreceptor-neochrome-that fuses red-sensing phytochrome and blue-sensing phototropin modules into a single gene, thereby optimizing phototropic responses. Despite being implicated in facilitating the diversification of modern ferns, the origin of neochrome has remained a mystery. We present evidence for neochrome in hornworts (a bryophyte lineage) and demonstrate that ferns acquired neochrome from hornworts via horizontal gene transfer (HGT). Fern neochromes are nested within hornwort neochromes in our large-scale phylogenetic reconstructions of phototropin and phytochrome gene families. Divergence date estimates further support the HGT hypothesis, with fern and hornwort neochromes diverging 179 Mya, long after the split between the two plant lineages (at least 400 Mya). By analyzing the draft genome of the hornwort Anthoceros punctatus, we also discovered a previously unidentified phototropin gene that likely represents the ancestral lineage of the neochrome phototropin module. Thus, a neochrome originating in hornworts was transferred horizontally to ferns, where it may have played a significant role in the diversification of modern ferns.
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