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Sökning: WFRF:(Hon Gary)

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1.
  • Birney, Ewan, et al. (författare)
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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2.
  • Hwang, Ai-Wen, et al. (författare)
  • Development and validation of the ICF-CY-Based Functioning Scale of the Disability Evaluation System – Child version in Taiwan
  • 2015
  • Ingår i: Journal of the Formosan Medical Association. - : Elsevier BV. - 0929-6646 .- 1876-0821. ; 114:12, s. 1170-1180
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Purpose: The International Classification of Functioning, Disability, and Health-Children and Youth version (ICF-CY) depicts human functioning [body functions (b), structures (s), and activities and participation (d) components] as the product of the interaction between health conditions and contextual factors [environmental factors (e) and personal factors]. In Taiwan, testers use the Functioning Scale of the Disability Evaluation System-Child version (FUNDES-Child) to collect information related to b, d, and e for children aged 6.0-17.9 years in the Disability Eligibility System (DES). The purpose of this study was to examine the content and construct validity of the FUNDES-Child.Methods: We developed the FUNDES-Child through translating the existing questionnaires, cross-cultural adaptation, expert consensus, and field tests. Consensus meetings were conducted to link items from the FUNDES-Child to ICF-CY codes. To investigate construct validity, we examined associations among scores from the FUNDES-Child that reflected ICF-CY chapter-linked components.Results: The FUNDES-Child items were successfully linked to all nine d-, five b-, and four e-chapters of the ICF-CY. Moderate correlations were found between scores that were expected to be related to specific chapters in the b, d, and e components. The scores of the b-chapters had stronger relationships with the d independence scores, while attitudes of others (e4) had stronger relationships with the d participation frequency scores.Conclusion: The FUNDES-Child had acceptable content validity and construct validity in the DES. The associations found among the ICF-CY chapter scores provided a model for investigating the impact of body functions and environmental factors on children's activities and participation.
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