GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Demographic history and rare allele sharing among human populations
    Proceedings of the National Academy of Sciences ; 2011
    In:  Proceedings of the National Academy of Sciences Vol. 108, No. 29 ( 2011-07-19), p. 11983-11988
    Details
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 108, No. 29 ( 2011-07-19), p. 11983-11988
    Abstract: High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental human populations and present an approach for combining complementary aspects of whole-genome, low-coverage data and targeted high-coverage data. We apply this approach to data generated by the pilot phase of the Thousand Genomes Project, including whole-genome 2–4× coverage data for 179 samples from HapMap European, Asian, and African panels as well as high-coverage target sequencing of the exons of 800 genes from 697 individuals in seven populations. We use the site frequency spectra obtained from these data to infer demographic parameters for an Out-of-Africa model for populations of African, European, and Asian descent and to predict, by a jackknife-based approach, the amount of genetic diversity that will be discovered as sample sizes are increased. We predict that the number of discovered nonsynonymous coding variants will reach 100,000 in each population after ∼1,000 sequenced chromosomes per population, whereas ∼2,500 chromosomes will be needed for the same number of synonymous variants. Beyond this point, the number of segregating sites in the European and Asian panel populations is expected to overcome that of the African panel because of faster recent population growth. Overall, we find that the majority of human genomic variable sites are rare and exhibit little sharing among diverged populations. Our results emphasize that replication of disease association for specific rare genetic variants across diverged populations must overcome both reduced statistical power because of rarity and higher population divergence.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    URL: Article
    DOI: 10.1073/pnas.1019276108
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2011
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Identical and Nonidentical Twins: Risk and Factors Involved in Development of Islet Autoimmunity and Type 1 Diabetes
    American Diabetes Association ; 2019
    In:  Diabetes Care Vol. 42, No. 2 ( 2019-02-01), p. 192-199
    Details
    In: Diabetes Care, American Diabetes Association, Vol. 42, No. 2 ( 2019-02-01), p. 192-199
    Abstract: There are variable reports of risk of concordance for progression to islet autoantibodies and type 1 diabetes in identical twins after one twin is diagnosed. We examined development of positive autoantibodies and type 1 diabetes and the effects of genetic factors and common environment on autoantibody positivity in identical twins, nonidentical twins, and full siblings. RESEARCH DESIGN AND METHODS Subjects from the TrialNet Pathway to Prevention Study (N = 48,026) were screened from 2004 to 2015 for islet autoantibodies (GAD antibody [GADA], insulinoma-associated antigen 2 [IA-2A] , and autoantibodies against insulin [IAA]). Of these subjects, 17,226 (157 identical twins, 283 nonidentical twins, and 16,786 full siblings) were followed for autoantibody positivity or type 1 diabetes for a median of 2.1 years. RESULTS At screening, identical twins were more likely to have positive GADA, IA-2A, and IAA than nonidentical twins or full siblings (all P & lt; 0.0001). Younger age, male sex, and genetic factors were significant factors for expression of IA-2A, IAA, one or more positive autoantibodies, and two or more positive autoantibodies (all P ≤ 0.03). Initially autoantibody-positive identical twins had a 69% risk of diabetes by 3 years compared with 1.5% for initially autoantibody-negative identical twins. In nonidentical twins, type 1 diabetes risk by 3 years was 72% for initially multiple autoantibody–positive, 13% for single autoantibody–positive, and 0% for initially autoantibody-negative nonidentical twins. Full siblings had a 3-year type 1 diabetes risk of 47% for multiple autoantibody–positive, 12% for single autoantibody–positive, and 0.5% for initially autoantibody-negative subjects. CONCLUSIONS Risk of type 1 diabetes at 3 years is high for initially multiple and single autoantibody–positive identical twins and multiple autoantibody–positive nonidentical twins. Genetic predisposition, age, and male sex are significant risk factors for development of positive autoantibodies in twins.
    Type of Medium: Online Resource
    ISSN: 0149-5992 , 1935-5548
    URL: Article
    DOI: 10.2337/dc18-0288
    Language: English
    Publisher: American Diabetes Association
    Publication Date: 2019
    detail.hit.zdb_id: 1490520-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    393. Isavuconazole in the Treatment of Coccidioidal Meningitis
    Oxford University Press (OUP) ; 2018
    In:  Open Forum Infectious Diseases Vol. 5, No. suppl_1 ( 2018-11-26), p. S152-S152
    Details
    In: Open Forum Infectious Diseases, Oxford University Press (OUP), Vol. 5, No. suppl_1 ( 2018-11-26), p. S152-S152
    Type of Medium: Online Resource
    ISSN: 2328-8957
    URL: Article
    DOI: 10.1093/ofid/ofy210.404
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2018
    detail.hit.zdb_id: 2757767-3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    INTERVIEW FOLLOW-UP OF ABORTION APPLICANT DROPOUTS
    Ovid Technologies (Wolters Kluwer Health) ; 1977
    In:  Obstetrical & Gynecological Survey Vol. 32, No. 2 ( 1977-02), p. 96-97
    Details
    In: Obstetrical & Gynecological Survey, Ovid Technologies (Wolters Kluwer Health), Vol. 32, No. 2 ( 1977-02), p. 96-97
    Type of Medium: Online Resource
    ISSN: 0029-7828
    URL: Article
    DOI: 10.1097/00006254-197702000-00015
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 1977
    detail.hit.zdb_id: 2043471-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Cross-disciplinary, collaborative and student-led: developing a change process for diversifying reading lists
    UCL Press ; 2022
    In:  London Review of Education Vol. 20, No. 1 ( 2022)
    Details
    In: London Review of Education, UCL Press, Vol. 20, No. 1 ( 2022)
    Abstract: Increasingly across many UK higher education institutions staff and students are questioning and challenging systemic inequalities that affect racially minoritised groups in their learning and sense of belonging within the curriculum. Students are calling for inclusion of diverse sources of knowledge and perspectives, especially from scholars of colour and from the Global South, to enrich what is currently perceived to be a Eurocentric canon. One way to promote more culturally aligned pedagogy is through diversifying reading lists. This article presents findings from two pilot studies that explored the reading lists in one department in social sciences and one in the humanities at the University of Kent, UK. Applying critical race theory as a guiding framework, the first part of the article examines the ways in which a diverse curriculum must include the voices of the marginalised. It then describes the methods: a desk-based review of the reading lists, interviews with academics to inform the work, disseminate the findings, instigate further action and identify future needs, and student focus groups. Crucially, the project resulted from the collaboration between students and staff, and across departments and disciplines. We found that reading lists in both departments overwhelmingly comprised items by White male authors. Students and staff both reflected on the importance of not only curriculum diversification but also barriers to diversification and decolonisation. The article discusses the impact of this project, which has led to a Diversity Mark process, and the Diversity Mark Toolkit, which can be used in any discipline when putting together reading lists to create a more culturally competent curriculum. It concludes by considering other systemic changes needed, with particular attention to changes needed in library services and collections.
    Type of Medium: Online Resource
    ISSN: 1474-8479
    URL: Article
    DOI: 10.14324/LRE.20.1.01
    Language: English
    Publisher: UCL Press
    Publication Date: 2022
    detail.hit.zdb_id: 2111142-X
    SSG: 5,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
    Springer Science and Business Media LLC ; 2022
    In:  Genome Biology Vol. 23, No. 1 ( 2022-12-14)
    Details
    In: Genome Biology, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2022-12-14)
    Abstract: Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for “novel” STRs, which include new motifs at known loci or STRs absent from the reference genome. We developed STRling to efficiently count k-mers to recover informative reads and call expansions at known and novel STR loci. STRling is sensitive to known STR disease loci, has a low false discovery rate, and resolves novel STR expansions to base-pair position accuracy. It is fast, scalable, open-source, and available at: github.com/quinlan-lab/STRling .
    Type of Medium: Online Resource
    ISSN: 1474-760X
    URL: Article
    DOI: 10.1186/s13059-022-02826-4
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2040529-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    Isavuconazole in the Treatment of Coccidioidal Meningitis
    American Society for Microbiology ; 2019
    In:  Antimicrobial Agents and Chemotherapy Vol. 63, No. 3 ( 2019-03)
    Details
    In: Antimicrobial Agents and Chemotherapy, American Society for Microbiology, Vol. 63, No. 3 ( 2019-03)
    Abstract: Patients with coccidioidal meningitis require lifelong antifungal therapy. Cumulative toxicity and lack of antifungal efficacy require salvage therapy in the treatment of some patients. In a retrospective review of nine patients with coccidioidal meningitis treated with isavuconazole, successful therapy was seen in three patients and stable disease was confirmed in six patients. Isavuconazole may be a useful addition to the therapeutic choices currently available for coccidioidal meningitis.
    Type of Medium: Online Resource
    ISSN: 0066-4804 , 1098-6596
    URL: Article
    DOI: 10.1128/AAC.02232-18
    RVK:
    XA 24552
    Language: English
    Publisher: American Society for Microbiology
    Publication Date: 2019
    detail.hit.zdb_id: 1496156-8
    SSG: 12
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    Online Resource
    Online Resource
    P126 Cycling of JAK inhibitors: Experience from a large UK teaching hospital
    Oxford University Press (OUP) ; 2023
    In:  Rheumatology Vol. 62, No. Supplement_2 ( 2023-04-24)
    Details
    In: Rheumatology, Oxford University Press (OUP), Vol. 62, No. Supplement_2 ( 2023-04-24)
    Abstract: JAK inhibitors (JAKi) are relatively recently licenced for treatment of inflammatory arthritis. Therefore, long term data regarding outcomes for patients cycling through multiple JAKi are lacking. However, one recent international cohort study (Pombo Suarez et al) suggested cycling JAKi is similarly efficacious as switching to an alternative biologic DMARD after initial treatment failure. The aim of this study was to assess outcomes for patients switching JAKi in a large, UK teaching hospital. Methods This was a retrospective cohort study of patients prescribed a JAKi for inflammatory arthritis at Sheffield Teaching Hospitals. Patients who had received two or more JAKi were identified through a local biologic database. Demographic data, antibody status, concomitant medications, previous biologics, and reasons for switching therapy were collected. Results We identified 20 patients who had cycled through JAKi. The diagnosis was Rheumatoid arthritis in 75% (n = 15) of patients. The remaining patients had Psoriatic arthritis (n = 3), seronegative inflammatory arthritis (n = 1) or axial spondyloarthritis (n = 1). 95% (n = 19) of patients were female. 50% of patients used concomitant DMARD therapy and 15% were prescribed concomitant steroids. 85% (n = 17) of patients had received two JAKi and 15% (n = 3) had received three. Initial JAKi prescribed was Baricitinib in 40%, Tofacitinib in 40%, Filgotinib in 10% and Upadacitinib in 10% of patients. The most frequent reason for cycling JAKi was secondary loss of efficacy, affecting 40% (n = 8) of patients. The duration of treatment before loss of effect ranged from 6-45 months (IQR 12-31 months). 100% of these patients remain on their second JAKi with good response. 35% (n = 7) of patients stopped initial JAKi therapy due to side effects. These included gastrointestinal upset, headaches, and rash. 86% (n = 6) of these patients did not tolerate a second JAKi due to re-occurrence of the same side effect, including one patient with recurrence of the same side effect on a third JAKi. One patient who had headaches with their first JAKi has remained well on their second JAKi. 20% (n = 4) of patients changed therapy due to primary nonresponse to initial JAKi. One patient failed to respond sufficiently to either JAKi and alternative treatment was commenced. Three patients responded to a second JAKi, although two later lost efficacy and are currently responding well to a third JAKi. One patient switched JAKi due to cardiovascular risk with Tofacitinib. Conclusion This study supports recent studies in finding that cycling JAKi in patients who lose efficacy or do not respond to initial JAKi can be an effective treatment strategy. However, in patients who stop initial JAKi due to side effects, cycling to a further JAKi is less likely to be successful, with recurrence of side effects in most cases. Disclosure E.M. Quinlan: None. M. Cox: None. J.R. Maxwell: Honoraria; BMS, Pfizer, Abbvie, Lilly, Gilead.
    Type of Medium: Online Resource
    ISSN: 1462-0324 , 1462-0332
    URL: Article
    DOI: 10.1093/rheumatology/kead104.167
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 1474143-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk
    American Diabetes Association ; 2018
    In:  Diabetes Care Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894
    Details
    In: Diabetes Care, American Diabetes Association, Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894
    Abstract: We tested the ability of a type 1 diabetes (T1D) genetic risk score (GRS) to predict progression of islet autoimmunity and T1D in at-risk individuals. RESEARCH DESIGN AND METHODS We studied the 1,244 TrialNet Pathway to Prevention study participants (T1D patients’ relatives without diabetes and with one or more positive autoantibodies) who were genotyped with Illumina ImmunoChip (median [range] age at initial autoantibody determination 11.1 years [1.2–51.8], 48% male, 80.5% non-Hispanic white, median follow-up 5.4 years). Of 291 participants with a single positive autoantibody at screening, 157 converted to multiple autoantibody positivity and 55 developed diabetes. Of 953 participants with multiple positive autoantibodies at screening, 419 developed diabetes. We calculated the T1D GRS from 30 T1D-associated single nucleotide polymorphisms. We used multivariable Cox regression models, time-dependent receiver operating characteristic curves, and area under the curve (AUC) measures to evaluate prognostic utility of T1D GRS, age, sex, Diabetes Prevention Trial–Type 1 (DPT-1) Risk Score, positive autoantibody number or type, HLA DR3/DR4-DQ8 status, and race/ethnicity. We used recursive partitioning analyses to identify cut points in continuous variables. RESULTS Higher T1D GRS significantly increased the rate of progression to T1D adjusting for DPT-1 Risk Score, age, number of positive autoantibodies, sex, and ethnicity (hazard ratio [HR] 1.29 for a 0.05 increase, 95% CI 1.06–1.6; P = 0.011). Progression to T1D was best predicted by a combined model with GRS, number of positive autoantibodies, DPT-1 Risk Score, and age (7-year time-integrated AUC = 0.79, 5-year AUC = 0.73). Higher GRS was significantly associated with increased progression rate from single to multiple positive autoantibodies after adjusting for age, autoantibody type, ethnicity, and sex (HR 2.27 for GRS & gt;0.295, 95% CI 1.47–3.51; P = 0.0002). CONCLUSIONS The T1D GRS independently predicts progression to T1D and improves prediction along T1D stages in autoantibody-positive relatives.
    Type of Medium: Online Resource
    ISSN: 0149-5992 , 1935-5548
    URL: Article
    DOI: 10.2337/dc18-0087
    Language: English
    Publisher: American Diabetes Association
    Publication Date: 2018
    detail.hit.zdb_id: 1490520-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    Interview follow-up of abortion applicant dropouts
    Springer Science and Business Media LLC ; 1976
    In:  Social Psychiatry Vol. 11, No. 3 ( 1976), p. 135-143
    Details
    In: Social Psychiatry, Springer Science and Business Media LLC, Vol. 11, No. 3 ( 1976), p. 135-143
    Type of Medium: Online Resource
    ISSN: 0037-7813 , 1433-9285
    URL: Article
    DOI: 10.1007/BF00579312
    RVK:
    CL 1000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 1976
    detail.hit.zdb_id: 1463160-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...