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  • 1
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 378, No. 6615 ( 2022-10-07)
    Abstract: Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century. Expanse of SARS-CoV-2 sequencing capacity in Africa. ( A ) African countries (shaded in gray) and institutions (red circles) with on-site sequencing facilities that are capable of producing SARS-CoV-2 whole genomes locally. ( B ) The number of SARS-CoV-2 genomes produced per country and the proportion of those genomes that were produced locally, regionally within Africa, or abroad. ( C ) Decreased turnaround time of sequencing output in Africa to an almost real-time release of genomic data.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
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    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2022
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  • 2
    Online Resource
    Online Resource
    University of Chicago Press ; 2007
    In:  Current Anthropology Vol. 48, No. 5 ( 2007-10), p. 750-755
    In: Current Anthropology, University of Chicago Press, Vol. 48, No. 5 ( 2007-10), p. 750-755
    Type of Medium: Online Resource
    ISSN: 0011-3204 , 1537-5382
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    Language: English
    Publisher: University of Chicago Press
    Publication Date: 2007
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  • 3
    Online Resource
    Online Resource
    Acoustical Society of America (ASA) ; 2011
    In:  The Journal of the Acoustical Society of America Vol. 130, No. 4_Supplement ( 2011-10-01), p. 2547-2547
    In: The Journal of the Acoustical Society of America, Acoustical Society of America (ASA), Vol. 130, No. 4_Supplement ( 2011-10-01), p. 2547-2547
    Abstract: The de facto international standard for the forensic exchange of data for biometric recognition is ANSI/NIST ITL-1/2, “Data Format for the Interchange of Fingerprint, Facial, and Other Biometric Information.” This format is used by law enforcement, intelligence, military, and homeland security organizations thoughout the world to exchange fingerprint, face, scar/mark/tatoo, iris, and palmprint data. To date, however, there is no provision within the standard for the exchange of audio data for the purpose of forensic speaker recognition. During the recent 5-year update process for ANSI/NIST ITL-1/2, a consensus decision was made to advance a voice data format type under the name “Type 11 record.” Creating such an exchange format type, however, is far from straight forward—the problem being not the encoding of the autio data, for which many accepted standards exist, but rather in reaching a consensus on the metadata needed to support the varied mission requirements across the stakeholder communities. In this talk, we'll discuss the progress that has been made to date, the questions that remain, and the requirements for additional input from the broader stakeholder communities.
    Type of Medium: Online Resource
    ISSN: 0001-4966 , 1520-8524
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    Language: English
    Publisher: Acoustical Society of America (ASA)
    Publication Date: 2011
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  • 4
    Online Resource
    Online Resource
    Wiley ; 2023
    In:  International Journal of Language & Communication Disorders Vol. 58, No. 3 ( 2023-05), p. 786-801
    In: International Journal of Language & Communication Disorders, Wiley, Vol. 58, No. 3 ( 2023-05), p. 786-801
    Abstract: Measuring, assessing and managing outcomes in school practice environments is difficult due to the complex nature of school communities as well as the recent shift in service‐delivery models towards tiered approaches. In tiered approaches, multiple levels of service are offered to better match students’ needs. Each level of service may require different outcomes and management techniques. Research to date on outcomes has focused on measuring outcomes in medical settings, leaving a substantive gap in the literature regarding practice in schools. Aims The first aim was to explore how school‐based speech–language therapists approached outcomes management as their clinical programmes transitioned to tiered service‐delivery models The second aim was to describe the successes and challenges in outcomes management reported by clinicians in this context. Methods & Procedures A secondary deductive‐inductive content analysis was performed using qualitative interviews with 24 clinical managers and senior therapists from schools across Ontario, Canada. Using a framework of outcomes measurement, assessment and management in schools based on previous research studies, data were grouped into broad categories deductively, and then the content of each category was further explored using inductive coding. Iterative peer debriefing and reflexive journaling were key strategies to increase the trustworthiness of the results. Findings & Results Participants reported measuring and qualitatively assessing seven key outcomes for school‐based practice. These included: (1) student progress and achievement, (2) student participation and inclusion in the school community, (3) stakeholder perspectives, (4) ‘buy‐in’, (5) expanded capacities, (6) responsiveness to needs and (7) accountability to systems. Participants reported more challenges than successes in outcomes management during this transition to tiered services. Challenges were attributed to idiosyncratic organizational barriers, the transition to tiered models and the philosophy of working within the educational system. Conclusions & Implications School‐based speech–language therapists measure, assess and manage multiple outcomes relevant to school‐based practice in tiered service‐delivery models. Many challenges remain. Solutions to support meaningful, systematic and proactive outcomes management in schools should address the broader set of outcomes relevant to tiered service‐delivery models and the unique practice context of the educational system, while remaining responsive to idiosyncratic organizational factors. Sustained clinical–research collaboration and knowledge exchange is recommended. What This Paper Adds What is already known on the subject Systematic, proactive collection and interpretation of outcomes has long been encouraged within speech–language therapy. However, implementing outcomes management in clinical practice remains a substantial challenge. Additionally, research on outcomes to date has focused on medical practice environments, to the exclusion of school‐based practice. What are the potential or actual clinical implications of this work? Outcomes management is valued in school practice environments; however, the current repertoire of techniques for outcomes management are a poor match for school‐based practice. Clinicians in schools would benefit from the development of contextually relevant, meaningful and feasible outcomes management tools.
    Type of Medium: Online Resource
    ISSN: 1368-2822 , 1460-6984
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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  • 5
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 375, No. 6580 ( 2022-02-04), p. 540-545
    Abstract: A cluster of HIV-infected individuals with high viral loads, rapid CD4 + cell declines, and increased infectivity has been detected in Europe.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
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    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2022
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  • 6
    Online Resource
    Online Resource
    Proceedings of the National Academy of Sciences ; 2016
    In:  Proceedings of the National Academy of Sciences Vol. 113, No. 47 ( 2016-11-22), p. 13366-13371
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 113, No. 47 ( 2016-11-22), p. 13366-13371
    Abstract: Educational attainment is associated with many health outcomes, including longevity. It is also known to be substantially heritable. Here, we used data from three large genetic epidemiology cohort studies (Generation Scotland, n = ∼17,000; UK Biobank, n = ∼115,000; and the Estonian Biobank, n = ∼6,000) to test whether education-linked genetic variants can predict lifespan length. We did so by using cohort members’ polygenic profile score for education to predict their parents’ longevity. Across the three cohorts, meta-analysis showed that a 1 SD higher polygenic education score was associated with ∼2.7% lower mortality risk for both mothers (total n deaths = 79,702) and ∼2.4% lower risk for fathers (total n deaths = 97,630). On average, the parents of offspring in the upper third of the polygenic score distribution lived 0.55 y longer compared with those of offspring in the lower third. Overall, these results indicate that the genetic contributions to educational attainment are useful in the prediction of human longevity.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
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    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2016
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  • 7
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 364, No. 6442 ( 2019-05-24)
    Abstract: Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother–offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
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    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2019
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  • 8
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 330, No. 6000 ( 2010-10), p. 86-88
    Abstract: Culex quinquefasciatus (the southern house mosquito) is an important mosquito vector of viruses such as West Nile virus and St. Louis encephalitis virus, as well as of nematodes that cause lymphatic filariasis. C. quinquefasciatus is one species within the Culex pipiens species complex and can be found throughout tropical and temperate climates of the world. The ability of C. quinquefasciatus to take blood meals from birds, livestock, and humans contributes to its ability to vector pathogens between species. Here, we describe the genomic sequence of C. quinquefasciatus : Its repertoire of 18,883 protein-coding genes is 22% larger than that of Aedes aegypti and 52% larger than that of Anopheles gambiae with multiple gene-family expansions, including olfactory and gustatory receptors, salivary gland genes, and genes associated with xenobiotic detoxification.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
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    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2010
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  • 9
    In: Brain, Oxford University Press (OUP), Vol. 146, No. 1 ( 2023-01-05), p. 42-49
    Abstract: Mitochondria are a culprit in the onset of Parkinson’s disease, but their role during disease progression is unclear. Here we used Cox proportional hazards models to exam the effect of variation in the mitochondrial genome on longitudinal cognitive and motor progression over time in 4064 patients with Parkinson’s disease. Mitochondrial macro-haplogroup was associated with reduced risk of cognitive disease progression in the discovery and replication population. In the combined analysis, patients with the super macro-haplogroup J, T, U# had a 41% lower risk of cognitive progression with P = 2.42 × 10−6 compared to those with macro-haplogroup H. Exploratory analysis indicated that the common mitochondrial DNA variant, m.2706A & gt;G, was associated with slower cognitive decline with a hazard ratio of 0.68 (95% confidence interval 0.56–0.81) and P = 2.46 × 10−5. Mitochondrial haplogroups were not appreciably linked to motor progression. This initial genetic survival study of the mitochondrial genome suggests that mitochondrial haplogroups may be associated with the pace of cognitive progression in Parkinson’s disease over time.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
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    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
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  • 10
    In: Brain, Oxford University Press (OUP), Vol. 142, No. 7 ( 2019-07-01), p. 1876-1886
    Abstract: The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3/DHFR, as the variant most significantly associated with progression in Huntington’s disease. Using Illumina sequencing in Huntington’s disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG·CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington’s disease and myotonic dystrophy type 1, and slower progression (P = 3.86 × 10−7) in Huntington’s disease. RNA-Seq of whole blood in the Huntington’s disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington’s disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington’s disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
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    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2019
    detail.hit.zdb_id: 1474117-9
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