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Sökning: WFRF:(Heron Andrew J.)

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1.
  • Pinto, Dalila, et al. (författare)
  • Functional impact of global rare copy number variation in autism spectrum disorders.
  • 2010
  • Ingår i: Nature. - 0028-0836. ; 466:7304, s. 368-372
  • Tidskriftsartikel (refereegranskat)abstract
    • The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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2.
  • Anney, Richard, et al. (författare)
  • A genome-wide scan for common alleles affecting risk for autism.
  • 2010
  • Ingår i: Human Molecular Genetics. - 0964-6906. ; 19:20, s. 4072-4082
  • Tidskriftsartikel (refereegranskat)abstract
    • Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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3.
  • Anney, Richard, et al. (författare)
  • Individual common variants exert weak effects on the risk for autism spectrum disorders.
  • 2012
  • Ingår i: Human Molecular Genetics. - 0964-6906. ; 21:21, s. 4781-92
  • Tidskriftsartikel (refereegranskat)abstract
    • While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
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4.
  • McGinn, Steven, et al. (författare)
  • New technologies for DNA analysis : a review of the READNA Project
  • 2016
  • Ingår i: New Biotechnology. - 1871-6784 .- 1876-4347. ; 33:3, s. 311-330
  • Forskningsöversikt (övrigt vetenskapligt)abstract
    • The REvolutionary Approaches and Devices for Nucleic Acid analysis (READNA) project received funding from the European Commission for 4 1/2 years. The objectives of the project revolved around technological developments in nucleic acid analysis. The project partners have discovered, created and developed a huge body of insights into nucleic acid analysis, ranging from improvements and implementation of current technologies to the most promising sequencing technologies that constitute a 3rd and 4th generation of sequencing methods with nanopores and in situ sequencing, respectively.
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5.
  • McGinn, Steven, et al. (författare)
  • New Technologies for DNA analysis-A review of the READNA Project.
  • 2015
  • Ingår i: New Biotechnology. - Elsevier. - 1876-4347.
  • Forskningsöversikt (refereegranskat)abstract
    • The REvolutionary Approaches and Devices for Nucleic Acid analysis (READNA) project received funding from the European Commission for 4 1/2 years. The objectives of the project revolved around technological developments in nucleic acid analysis. The project partners have discovered, created and developed a huge body of insights into nucleic acid analysis, ranging from improvements and implementation of current technologies to the most promising sequencing technologies that constitute a 3(rd) and 4(th) generation of sequencing methods with nanopores and in situ sequencing, respectively.
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6.
  • Robson, Harry K., et al. (författare)
  • Carbon and nitrogen stable isotope values in freshwater, brackish and marine fish bone collagen from Mesolithic and Neolithic sites in central and northern Europe
  • 2016
  • Ingår i: Environmental Archaeology. - Maney on behalf of Association for Environmental Archaeology. - 1461-4103. ; 21:2, s. 105-118
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of this research is to examine the isotopic characterisation of archaeological fish species as it relates to freshwater, brackish and marine environments, trophic level and migration patterns, and to determine intraspecies variation within and between fish populations in different locations within central and northern Europe. Carbon and nitrogen stable isotope analysis was undertaken on collagen extracted from 72 fish bone samples from eight Mesolithic and Neolithic archaeological sites in this region. Thirty-six (50%) of the specimens analysed produced results with acceptable carbon to nitrogen atomic ratios (2·9–3·6). The fish remains encompassed a wide spectrum of freshwater, brackish and marine taxa (n = 12), which were reflected in the δ13C values (−24·5 to −7·8‰). The freshwater/brackish fish (pike, Esox lucius; perch, Perca fluviatilis; zander, Sander lucioperca) had δ13C values that ranged from −24·2 to −19·3‰, whereas the brackish/marine fish (spurdog, Squalus acanthias; flatfish, Pleuronectidae; codfish, Gadidae; garfish, Belone belone; mackerel, Scomber scombrus) ranged from −14·9 to −9·4‰. Salmonidae, an anadromous taxon, and eel (Anguilla anguilla), a catadromous species, had carbon isotope values consistent with marine origin, and no evidence of freshwater residency (−12·7 to −11·7‰). The δ15N values had a range of 6·2‰ (6·5–12·7‰) indicating that these fish were on average feeding at 1·7 trophic levels higher than their producers in these diverse aquatic environments. These results serve as an important ecological baseline for the future isotopic reconstruction of the diet of human populations dating to the late Mesolithic and early Neolithic of the region.
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