| 1. |
- Anney, Richard, et al.
(författare)
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A genome-wide scan for common alleles affecting risk for autism.
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
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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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| 2. |
- Holt, Carson, et al.
(författare)
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Improved Genome Assembly and Annotation for the Rock Pigeon (Columba livia)
- 2018
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Ingår i: G3. - : GENETICS SOCIETY AMERICA. - 2160-1836. ; 8:5, s. 1391-1398
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Tidskriftsartikel (refereegranskat)abstract
- The domestic rock pigeon (Columba livia) is among the most widely distributed and phenotypically diverse avian species. C. livia is broadly studied in ecology, genetics, physiology, behavior, and evolutionary biology, and has recently emerged as a model for understanding the molecular basis of anatomical diversity, the magnetic sense, and other key aspects of avian biology. Here we report an update to the C. livia genome reference assembly and gene annotation dataset. Greatly increased scaffold lengths in the updated reference assembly, along with an updated annotation set, provide improved tools for evolutionary and functional genetic studies of the pigeon, and for comparative avian genomics in general.
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| 3. |
- Pinto, Dalila, et al.
(författare)
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Functional impact of global rare copy number variation in autism spectrum disorders.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372
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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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| 4. |
- Vaughan, Geraldine, et al.
(författare)
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A "toolkit" for rural aged care? : Global insights from a scoping review
- 2022
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Ingår i: Frontiers in Political Science. - : Frontiers Media S.A.. - 2673-3145. ; 4
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Forskningsöversikt (refereegranskat)abstract
- Community-based social models of care for seniors promote better outcomes in terms of quality of life, managing chronic illness and life expectancy than institutional care. However, small rural areas in high income countries face an ongoing crisis in coordinating care related to service mix, workforce and access. A scoping review was conducted to examine initiatives that promoted integrated models of multisectoral, collaborative aged care in rural settings which could help respond to this ongoing crisis and improve responses to emergencies such as the COVID-19 pandemic. A systematic database search, screening and a two-stage full text review was followed by a case study critical appraisal. A content analysis of extracted data from included papers was undertaken. Integrated care services, activities and facilities were identified that helped guide the review process and data synthesis. The three included case studies all emphasized key principles that crucially underpinned the models related to collaboration, cooperation and innovation. Challenges to effective care included fiscal and structural constraints, with underlying social determinant impacts. Based on these findings, we describe the genesis of a "toolkit" with components of integrated models of care. Effective care requires aging to be addressed as a complex, interconnected social issue rather than solely a health problem. It demands a series of coordinated system-based responses that consider the complex and heterogeneous contexts (and needs) of communities. Such models are underpinned by leadership and political will, working with a wide breadth of stakeholders across family, community and clinical domains in private and public sectors.
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