| 1. |
- Callinan, Sarah, et al.
(författare)
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Purchasing, consumption, demographic and socioeconomic variables associated with shifts in alcohol consumption during the COVID-19 pandemic
- 2021
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Ingår i: Drug and Alcohol Review. - : Wiley. - 0959-5236 .- 1465-3362. ; 45, s. 24A-24A
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Tidskriftsartikel (refereegranskat)abstract
- Introduction and Aims: Restrictions introduced to reduce the spread of COVID-19 have had major impacts on the living circumstances of Australians. This paper aims to provide insight into shifts in alcohol consumption and associated factors during the epidemic. Design and Methods: A cross-sectional convenience sample of 2307 Australians aged 18 and over who drank at least monthly was recruited through social media. Respondents were asked about their alcohol consumption and purchasing in 2019 prior to the epidemic plus similar questions about their experiences in the month prior to being surveyed between 29 April and 16 May 2020. Results: Reports of average consumption before (3.53 drinks per day [3.36, 3.71 95% confidence interval]) and during (3.52 [3.34, 3.69]) the pandemic were stable. However, young men and those who drank more outside the home in 2019 reported decreased consumption during the pandemic, and people with high levels of stress and those who bulk-bought alcohol when restrictions were announced reported an increase in consumption relative to those who did not. Discussion and Conclusions: A reported increase in consumption among those experiencing more stress suggests that some people may have been drinking to cope during the epidemic. Conversely, the reported decrease in consumption among those who drank more outside of their home in 2019 suggests that closing all on-trade sales did not result in complete substitution of on-premise drinking with home drinking in this group. Monitoring of relevant subgroups to assess long-term changes in consumption in the aftermath of the epidemic is recommended.
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| 2. |
- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 3. |
- In ’t Veld, Sjors G.J.G., et al.
(författare)
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Detection and localization of early- and late-stage cancers using platelet RNA
- 2022
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Ingår i: Cancer Cell. - : Elsevier. - 1535-6108 .- 1878-3686. ; 40:9, s. 999-1009.e6
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Tidskriftsartikel (refereegranskat)abstract
- Cancer patients benefit from early tumor detection since treatment outcomes are more favorable for less advanced cancers. Platelets are involved in cancer progression and are considered a promising biosource for cancer detection, as they alter their RNA content upon local and systemic cues. We show that tumor-educated platelet (TEP) RNA-based blood tests enable the detection of 18 cancer types. With 99% specificity in asymptomatic controls, thromboSeq correctly detected the presence of cancer in two-thirds of 1,096 blood samples from stage I–IV cancer patients and in half of 352 stage I–III tumors. Symptomatic controls, including inflammatory and cardiovascular diseases, and benign tumors had increased false-positive test results with an average specificity of 78%. Moreover, thromboSeq determined the tumor site of origin in five different tumor types correctly in over 80% of the cancer patients. These results highlight the potential properties of TEP-derived RNA panels to supplement current approaches for blood-based cancer screening.
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| 4. |
- Laslett, Anne-Marie, et al.
(författare)
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Alcohol's harm to others in 2021 : Who bears the burden?
- 2023
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Ingår i: Addiction. - 0965-2140 .- 1360-0443. ; 118:9, s. 1726-1738
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Tidskriftsartikel (refereegranskat)abstract
- Background and aims: Alcohol's harm to others (AHTO) has become a key driver of national and international alcohol policy. This study aimed to produce a contemporary, comprehensive estimate of the correlates and harms from others' drinking in 2021 in Australia.Design, setting, participants and measurements: Across Australia, 2574 adults (1380 women; 1172 men) were sampled via two cross-sectional survey modes: a random-digit dial mobile phone sample of 1000 people and 1574 people from the Life in Australia™ panel survey. In 2021 participants were asked about harms they had experienced from the drinking of family, friends, co-workers and the public in the past year. Applying combined sample weights from each mode, bivariable and adjusted multivariable logistic regressions were used to analyse differences in rates of AHTO by participant gender, age, residence in rural or metropolitan regions, country of birth, education and employment.Findings: In 2021, 23.6% reported being negatively affected by strangers' drinking and 21.3% by the drinking of someone they knew, with 34.3% reporting being negatively affected a lot or a little by either; 42.4% of respondents reported specific harms from strangers' drinking. Thus, 48.1% of respondents reported any harm (negative effects or specific harms) from others' drinking. Women, younger people, Australian-born and heavier episodic drinkers reported significantly higher rates of AHTO compared with other respondents. Smaller percentages (7.5%) of participants reported being harmed substantially by others' drinking, including by people they knew (5.8%) or strangers (2.3%). Stratified analyses showed that heavier drinking, furloughed, younger men who were born overseas in English-speaking countries were affected by others' drinking, whereas women were affected regardless of these factors (apart from age).Conclusions: More than one-third of Australian adults appear to have been negatively affected by others' drinking in 2021, with women, younger people and heavier drinkers at greater risk. Substantial harm appears to be more likely to arise from the drinking of people Australians know than from strangers' drinking.
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| 5. |
- Marschall, Tobias, et al.
(författare)
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Computational pan-genomics : status, promises and challenges
- 2018
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Ingår i: Briefings in Bioinformatics. - : Oxford University Press (OUP). - 1467-5463 .- 1477-4054. ; 19:1, s. 118-135
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Tidskriftsartikel (refereegranskat)abstract
- Many disciplines, from human genetics and oncology to plant breeding, microbiology and virology, commonly face the challenge of analyzing rapidly increasing numbers of genomes. In case of Homo sapiens, the number of sequenced genomes will approach hundreds of thousands in the next few years. Simply scaling up established bioinformatics pipelines will not be sufficient for leveraging the full potential of such rich genomic data sets. Instead, novel, qualitatively different computational methods and paradigms are needed. We will witness the rapid extension of computational pan-genomics, a new sub-area of research in computational biology. In this article, we generalize existing definitions and understand a pan-genome as any collection of genomic sequences to be analyzed jointly or to be used as a reference. We examine already available approaches to construct and use pan-genomes, discuss the potential benefits of future technologies and methodologies and review open challenges from the vantage point of the above-mentioned biological disciplines. As a prominent example for a computational paradigm shift, we particularly highlight the transition from the representation of reference genomes as strings to representations as graphs. We outline how this and other challenges from different application domains translate into common computational problems, point out relevant bioinformatics techniques and identify open problems in computer science. With this review, we aim to increase awareness that a joint approach to computational pan-genomics can help address many of the problems currently faced in various domains.
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| 6. |
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| 7. |
- Simon, David, 1957, et al.
(författare)
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The challenges of transdisciplinary knowledge production: from unilocal to comparative research
- 2018
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Ingår i: Environment and Urbanization. - : SAGE Publications. - 0956-2478 .- 1746-0301. ; 30:2, s. 481-500
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Tidskriftsartikel (refereegranskat)abstract
- This reflective paper surveys the lessons learnt and challenges faced by the Mistra Urban Futures (MUF) research centre and its research platforms in Sweden, the UK, South Africa and Kenya in developing and deploying different forms of transdisciplinary co-production of knowledge. Considerable experience with a distinctive portfolio of such methods has been gained and reflective evaluation is now under way. While it is important to understand the local context within which each method has evolved, we seek to explain the potential for adaptation in diverse contexts so that such knowledge co-production methods can be more widely utilized. Furthermore, the current phase of MUF’s work is undertaking innovative comparative transdisciplinary co-production research across its research platforms. Since the specific local projects differ, systematic thematic comparison requires great care and methodological rigour. Transdisciplinary co-production is inherently complex, time consuming and often unpredictable in terms of outcomes, and these challenges are intensified when it is undertaken comparatively.
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| 8. |
- Strom, Nora I., et al.
(författare)
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Genome-Wide Association Study of Obsessive-Compulsive Symptoms including 33,943 individuals from the general population
- 2024
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Ingår i: Molecular Psychiatry. - : Springer Nature. - 1359-4184 .- 1476-5578.
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Tidskriftsartikel (refereegranskat)abstract
- While 1-2% of individuals meet the criteria for a clinical diagnosis of obsessive-compulsive disorder (OCD), many more (~13-38%) experience subclinical obsessive-compulsive symptoms (OCS) during their life. To characterize the genetic underpinnings of OCS and its genetic relationship to OCD, we conducted the largest genome-wide association study (GWAS) meta-analysis of parent- or self-reported OCS to date (N = 33,943 with complete phenotypic and genome-wide data), combining the results from seven large-scale population-based cohorts from Sweden, the Netherlands, England, and Canada (including six twin cohorts and one cohort of unrelated individuals). We found no genome-wide significant associations at the single-nucleotide polymorphism (SNP) or gene-level, but a polygenic risk score (PRS) based on the OCD GWAS previously published by the Psychiatric Genetics Consortium (PGC-OCD) was significantly associated with OCS (Pfixed = 3.06 × 10-5). Also, one curated gene set (Mootha Gluconeogenesis) reached Bonferroni-corrected significance (Ngenes = 28, Beta = 0.79, SE = 0.16, Pbon = 0.008). Expression of genes in this set is high at sites of insulin mediated glucose disposal. Dysregulated insulin signaling in the etiology of OCS has been suggested by a previous study describing a genetic overlap of OCS with insulin signaling-related traits in children and adolescents. We report a SNP heritability of 4.1% (P = 0.0044) in the meta-analyzed GWAS, and heritability estimates based on the twin cohorts of 33-43%. Genetic correlation analysis showed that OCS were most strongly associated with OCD (rG = 0.72, p = 0.0007) among all tested psychiatric disorders (N = 11). Of all 97 tested phenotypes, 24 showed a significant genetic correlation with OCS, and 66 traits showed concordant directions of effect with OCS and OCD. OCS have a significant polygenic contribution and share genetic risk with diagnosed OCD, supporting the hypothesis that OCD represents the extreme end of widely distributed OCS in the population.
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| 9. |
- Strom, Nora I., et al.
(författare)
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Meta-analysis of genome-wide association studies of hoarding symptoms in 27,537 individuals
- 2022
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Ingår i: Translational Psychiatry. - : Springer Nature. - 2158-3188. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Hoarding Disorder (HD) is a mental disorder characterized by persistent difficulties discarding or parting with possessions, often resulting in cluttered living spaces, distress, and impairment. Its etiology is largely unknown, but twin studies suggest that it is moderately heritable. In this study, we pooled phenotypic and genomic data from seven international cohorts (N = 27,537 individuals) and conducted a genome wide association study (GWAS) meta-analysis of parent- or self-reported hoarding symptoms (HS). We followed up the results with gene-based and gene-set analyses, as well as leave-one-out HS polygenic risk score (PRS) analyses. To examine a possible genetic association between hoarding symptoms and other phenotypes we conducted cross-trait PRS analyses. Though we did not report any genome-wide significant SNPs, we report heritability estimates for the twin-cohorts between 26-48%, and a SNP-heritability of 11% for an unrelated sub-cohort. Cross-trait PRS analyses showed that the genetic risk for schizophrenia and autism spectrum disorder were significantly associated with hoarding symptoms. We also found suggestive evidence for an association with educational attainment. There were no significant associations with other phenotypes previously linked to HD, such as obsessive-compulsive disorder, depression, anxiety, or attention-deficit hyperactivity disorder. To conclude, we found that HS are heritable, confirming and extending previous twin studies but we had limited power to detect any genome-wide significant loci. Much larger samples will be needed to further extend these findings and reach a "gene discovery zone". To move the field forward, future research should not only include genetic analyses of quantitative hoarding traits in larger samples, but also in samples of individuals meeting strict diagnostic criteria for HD, and more ethnically diverse samples.
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