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Sökning: WFRF:(Caulfield Gareth)

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1.
  • Craddock, Nick, et al. (författare)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Tidskriftsartikel (refereegranskat)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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2.
  • Thomas, Enlli, et al. (författare)
  • Working towards diagnosing bilingual children's language abilities : issues for teachers in Wales
  • 2022
  • Ingår i: Cylchgrawn Addysg Cymru / Wales Journal of Education. - : University of Wales Press. - 2059-3708 .- 2059-3716. ; 24:2, s. 50-73
  • Tidskriftsartikel (refereegranskat)abstract
    • One area of concern within a bilingual context relates to the appropriate‘diagnostic’ assessment of bilingual children’s language abilities and to thesuitable application of their assessment results in practice. Communicationand language difficulties are numerous and complex, and manifest themselvesin a variety of ways that are captured to different degrees via standardisedtests. Such tools are readily available – often in multiple forms – in somelanguages, such as English, but less readily available in others. This is particu-larly the case for minority languages such as Welsh, and this poses greatdifficulty when aiming for a certain type of assessment of specific languageabilities. This paper outlines the current state of diagnostic assessment toolsfor Welsh, with a specific focus on measures of literacy abilities. Drawing onresearch evidence from the Welsh context, we argue for appropriate trainingof educators in this area, and for the urgent need to develop tools that are bothlanguage and context specific, with relevant bilingual speaker norms, thathave practical applications in the classroom, to ensure equitable and relevantdiagnosis and support for all children educated in Wales.
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