Publisher: Cambridge University Press   (Total: 387 journals)

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Showing 1 - 200 of 387 Journals sorted alphabetically
Acta Neuropsychiatrica     Hybrid Journal   (Followers: 6, SJR: 0.733, CiteScore: 2)
Acta Numerica     Hybrid Journal   (Followers: 5, SJR: 6.709, CiteScore: 10)
Advances in Animal Biosciences     Full-text available via subscription   (Followers: 14)
Advances in Applied Mathematics and Mechanics     Full-text available via subscription   (Followers: 2, SJR: 0.441, CiteScore: 1)
Aeronautical J., The     Hybrid Journal   (Followers: 7)
Africa     Hybrid Journal   (Followers: 22, SJR: 0.582, CiteScore: 1)
African Studies Review     Full-text available via subscription   (Followers: 21, SJR: 0.437, CiteScore: 1)
Ageing & Society     Hybrid Journal   (Followers: 44, SJR: 0.756, CiteScore: 2)
Agricultural and Resource Economics Review     Open Access   (Followers: 7, SJR: 0.414, CiteScore: 1)
AI EDAM     Hybrid Journal   (Followers: 2, SJR: 0.375, CiteScore: 1)
AJIL Unbound     Open Access  
AJS Review     Full-text available via subscription   (Followers: 4, SJR: 0.128, CiteScore: 0)
American Political Science Review     Hybrid Journal   (Followers: 322, SJR: 5.587, CiteScore: 4)
Anatolian Studies     Full-text available via subscription   (Followers: 5, SJR: 0.528, CiteScore: 1)
Ancient Mesoamerica     Hybrid Journal   (Followers: 12, SJR: 0.478, CiteScore: 1)
Anglo-Saxon England     Hybrid Journal   (Followers: 36, SJR: 0.1, CiteScore: 0)
animal     Hybrid Journal   (Followers: 4, SJR: 0.842, CiteScore: 2)
Animal Health Research Reviews     Hybrid Journal   (Followers: 3, SJR: 0.69, CiteScore: 2)
Animal Science     Full-text available via subscription   (Followers: 10)
Annals of Actuarial Science     Full-text available via subscription   (Followers: 1)
Annual of the British School at Athens     Full-text available via subscription   (Followers: 17, SJR: 0.177, CiteScore: 0)
Annual Review of Applied Linguistics     Hybrid Journal   (Followers: 44, SJR: 3.223, CiteScore: 4)
Antarctic Science     Hybrid Journal   (Followers: 1, SJR: 0.643, CiteScore: 1)
Antichthon     Full-text available via subscription   (Followers: 3, SJR: 0.101, CiteScore: 0)
Antiquaries J., The     Full-text available via subscription   (Followers: 12, SJR: 0.106, CiteScore: 0)
Antiquity     Hybrid Journal   (Followers: 33)
ANZIAM J.     Open Access   (Followers: 1, SJR: 0.216, CiteScore: 0)
Applied Psycholinguistics     Hybrid Journal   (Followers: 25, SJR: 0.945, CiteScore: 2)
APSIPA Transactions on Signal and Information Processing     Open Access   (Followers: 9, SJR: 0.404, CiteScore: 2)
Arabic Sciences and Philosophy     Hybrid Journal   (Followers: 9, SJR: 0.101, CiteScore: 0)
Arbor Clinical Nutrition Updates     Full-text available via subscription   (Followers: 5)
Archaeological Dialogues     Hybrid Journal   (Followers: 36, SJR: 0.898, CiteScore: 1)
Archaeological Reports     Full-text available via subscription   (Followers: 5, SJR: 0.128, CiteScore: 0)
Architectural History     Full-text available via subscription  
arq: Architectural Research Quarterly     Hybrid Journal   (Followers: 7, SJR: 0.123, CiteScore: 0)
Art Libraries J.     Full-text available via subscription   (Followers: 1)
Asian J. of Comparative Law     Hybrid Journal   (Followers: 11, SJR: 0.129, CiteScore: 0)
Asian J. of Intl. Law     Hybrid Journal   (Followers: 18, SJR: 0.135, CiteScore: 0)
Asian J. of Law and Society     Hybrid Journal   (Followers: 7, SJR: 0.195, CiteScore: 0)
Astin Bulletin     Full-text available via subscription   (Followers: 1, SJR: 0.878, CiteScore: 1)
Australasian J. of Organisational Psychology     Hybrid Journal   (Followers: 9, SJR: 0.154, CiteScore: 1)
Australian J. of Environmental Education     Full-text available via subscription   (Followers: 9, SJR: 0.403, CiteScore: 1)
Australian J. of Indigenous Education, The     Full-text available via subscription   (Followers: 11, SJR: 0.26, CiteScore: 1)
Australian J. of Rehabilitation Counseling     Full-text available via subscription   (Followers: 6, SJR: 0.144, CiteScore: 0)
Austrian History Yearbook     Full-text available via subscription   (Followers: 11, SJR: 0.161, CiteScore: 0)
Behavioral and Brain Sciences     Hybrid Journal   (Followers: 39, SJR: 0.595, CiteScore: 1)
Behaviour Change     Full-text available via subscription   (Followers: 13, SJR: 0.508, CiteScore: 1)
Behavioural and Cognitive Psychotherapy     Hybrid Journal   (Followers: 183, SJR: 0.976, CiteScore: 2)
Bilingualism: Language and Cognition     Hybrid Journal   (Followers: 44, SJR: 1.446, CiteScore: 2)
Biofilms     Full-text available via subscription   (Followers: 2)
Bird Conservation Intl.     Hybrid Journal   (Followers: 25, SJR: 0.581, CiteScore: 1)
BJPsych Advances     Full-text available via subscription   (Followers: 57, SJR: 0.275, CiteScore: 0)
BJPsych Intl.     Open Access   (Followers: 2)
BJPsych Open     Open Access   (Followers: 3)
Brain Impairment     Full-text available via subscription   (Followers: 2, SJR: 0.321, CiteScore: 1)
Breast Cancer Online     Full-text available via subscription   (Followers: 5)
Britannia     Full-text available via subscription   (Followers: 11, SJR: 0.111, CiteScore: 0)
British Actuarial J.     Full-text available via subscription  
British Catholic History     Hybrid Journal   (Followers: 2, SJR: 0.133, CiteScore: 1)
British J. for the History of Science     Hybrid Journal   (Followers: 25, SJR: 0.235, CiteScore: 0)
British J. of Anaesthetic and Recovery Nursing     Full-text available via subscription   (Followers: 8)
British J. of Music Education     Hybrid Journal   (Followers: 24, SJR: 0.564, CiteScore: 1)
British J. Of Nutrition     Hybrid Journal   (Followers: 92, SJR: 1.612, CiteScore: 4)
British J. of Political Science     Hybrid Journal   (Followers: 220, SJR: 4.661, CiteScore: 4)
British J. of Psychiatry     Hybrid Journal   (Followers: 232, SJR: 2.844, CiteScore: 3)
Bulletin of Entomological Research     Hybrid Journal   (Followers: 13, SJR: 0.805, CiteScore: 2)
Bulletin of Symbolic Logic     Full-text available via subscription   (Followers: 2, SJR: 0.555, CiteScore: 1)
Bulletin of the Australian Mathematical Society     Full-text available via subscription   (Followers: 2, SJR: 0.44, CiteScore: 0)
Bulletin of the School of Oriental and African Studies     Hybrid Journal   (Followers: 21, SJR: 0.146, CiteScore: 0)
Business and Human Rights J.     Full-text available via subscription   (Followers: 4, SJR: 0.536, CiteScore: 1)
Business Ethics Quarterly     Full-text available via subscription   (Followers: 18, SJR: 1.098, CiteScore: 2)
Business History Review     Hybrid Journal   (Followers: 16, SJR: 0.347, CiteScore: 1)
Cambridge Archaeological J.     Hybrid Journal   (Followers: 155, SJR: 1.121, CiteScore: 1)
Cambridge Classical J.     Full-text available via subscription   (Followers: 24, SJR: 0.101, CiteScore: 0)
Cambridge J. of Postcolonial Literary Inquiry     Hybrid Journal   (Followers: 7)
Cambridge Law J.     Hybrid Journal   (Followers: 204, SJR: 0.213, CiteScore: 0)
Cambridge Opera J.     Hybrid Journal   (Followers: 4, SJR: 0.14, CiteScore: 0)
Cambridge Quarterly of Healthcare Ethics     Hybrid Journal   (Followers: 11, SJR: 0.299, CiteScore: 1)
Cambridge Yearbook of European Legal Studies     Full-text available via subscription  
Camden Fifth Series     Full-text available via subscription   (Followers: 3)
Canadian Entomologist     Hybrid Journal   (Followers: 5, SJR: 0.482, CiteScore: 1)
Canadian J. of Emergency Medicine     Hybrid Journal   (Followers: 13, SJR: 0.624, CiteScore: 1)
Canadian J. of Law & Jurisprudence     Full-text available via subscription   (Followers: 11, SJR: 0.237, CiteScore: 0)
Canadian J. of Law and Society     Hybrid Journal   (Followers: 20, SJR: 0.259, CiteScore: 1)
Canadian J. of Mathematics / J. canadien de mathématiques     Hybrid Journal  
Canadian J. of Neurological Sciences     Full-text available via subscription   (SJR: 0.549, CiteScore: 1)
Canadian J. of Political Science/Revue canadienne de science politique     Full-text available via subscription   (Followers: 25, SJR: 0.385, CiteScore: 1)
Canadian J. on Aging     Hybrid Journal   (Followers: 13, SJR: 0.426, CiteScore: 1)
Canadian Mathematical Bulletin     Hybrid Journal  
Canadian Yearbook of Intl. Law / Annuaire canadien de droit international     Full-text available via subscription   (Followers: 3)
Cardiology in the Young     Hybrid Journal   (Followers: 34, SJR: 0.372, CiteScore: 1)
Central European History     Full-text available via subscription   (Followers: 33, SJR: 0.159, CiteScore: 0)
Children Australia     Partially Free   (Followers: 2, SJR: 0.255, CiteScore: 0)
China Quarterly     Hybrid Journal   (Followers: 54, SJR: 2.289, CiteScore: 3)
Chinese J. of Agricultural Biotechnology     Full-text available via subscription   (Followers: 4)
Church History : Studies in Christianity and Culture     Full-text available via subscription   (Followers: 77, SJR: 0.106, CiteScore: 0)
Classical Quarterly     Full-text available via subscription   (Followers: 36, SJR: 0.204, CiteScore: 0)
Classical Review     Full-text available via subscription   (Followers: 29)
CNS Spectrums     Hybrid Journal   (Followers: 3, SJR: 1.391, CiteScore: 3)
Cognitive Behaviour Therapist     Hybrid Journal   (Followers: 14)
Combinatorics, Probability and Computing     Hybrid Journal   (Followers: 4, SJR: 0.839, CiteScore: 1)
Communications in Computational Physics     Full-text available via subscription   (Followers: 3, SJR: 1.048, CiteScore: 2)
Comparative Studies in Society and History     Full-text available via subscription   (Followers: 49, SJR: 0.585, CiteScore: 1)
Compositio Mathematica     Full-text available via subscription   (SJR: 3.139, CiteScore: 1)
Contemporary European History     Hybrid Journal   (Followers: 35, SJR: 0.263, CiteScore: 1)
Continuity and Change     Hybrid Journal   (Followers: 12, SJR: 0.107, CiteScore: 0)
Dance Research J.     Full-text available via subscription   (Followers: 17, SJR: 0.211, CiteScore: 0)
Development and Psychopathology     Hybrid Journal   (Followers: 9, SJR: 2.068, CiteScore: 4)
Dialogue Canadian Philosophical Review/Revue canadienne de philosophie     Full-text available via subscription   (Followers: 5, SJR: 0.156, CiteScore: 0)
Diamond Light Source Proceedings     Full-text available via subscription   (Followers: 1)
Disaster Medicine and Public Health Preparedness     Hybrid Journal   (Followers: 15, SJR: 0.471, CiteScore: 1)
Du Bois Review: Social Science Research on Race     Full-text available via subscription   (Followers: 10, SJR: 0.561, CiteScore: 1)
Early China     Hybrid Journal   (Followers: 3)
Early Music History     Hybrid Journal   (Followers: 9, SJR: 0.101, CiteScore: 0)
Earth and Environmental Science Transactions of the Royal Society of Edinburgh     Hybrid Journal   (Followers: 5)
East Asian J. on Applied Mathematics     Full-text available via subscription   (SJR: 0.418, CiteScore: 1)
Ecclesiastical Law J.     Full-text available via subscription   (Followers: 6, SJR: 0.114, CiteScore: 0)
Econometric Theory     Hybrid Journal   (Followers: 18, SJR: 2.915, CiteScore: 1)
Economics and Philosophy     Hybrid Journal   (Followers: 18, SJR: 0.622, CiteScore: 1)
Edinburgh J. of Botany     Hybrid Journal   (SJR: 0.283, CiteScore: 1)
Educational and Developmental Psychologist     Full-text available via subscription   (Followers: 10, SJR: 0.146, CiteScore: 0)
Eighteenth-Century Music     Hybrid Journal   (Followers: 15, SJR: 0.113, CiteScore: 0)
English Language and Linguistics     Hybrid Journal   (Followers: 24, SJR: 0.52, CiteScore: 1)
English Profile J.     Hybrid Journal   (Followers: 2)
English Today     Hybrid Journal   (Followers: 13, SJR: 0.279, CiteScore: 0)
Enterprise & Society : The Intl. J. of Business History     Hybrid Journal   (Followers: 18, SJR: 0.245, CiteScore: 1)
Environment and Development Economics     Hybrid Journal   (Followers: 39, SJR: 0.617, CiteScore: 1)
Environmental Conservation     Hybrid Journal   (Followers: 60, SJR: 1.028, CiteScore: 2)
Environmental Practice     Full-text available via subscription   (Followers: 3, SJR: 0.145, CiteScore: 0)
Epidemiology & Infection     Hybrid Journal   (Followers: 22, SJR: 1.128, CiteScore: 2)
Epidemiology and Psychiatric Sciences     Hybrid Journal   (Followers: 3, SJR: 1.494, CiteScore: 2)
Episteme     Hybrid Journal   (Followers: 12, SJR: 0.756, CiteScore: 1)
Ergodic Theory and Dynamical Systems     Hybrid Journal   (Followers: 2, SJR: 1.193, CiteScore: 1)
Ethics & Intl. Affairs     Full-text available via subscription   (Followers: 17, SJR: 0.557, CiteScore: 1)
European Constitutional Law Review (EuConst)     Full-text available via subscription   (Followers: 35, SJR: 1.009, CiteScore: 1)
European J. of Applied Mathematics     Hybrid Journal   (SJR: 0.52, CiteScore: 1)
European J. of Intl. Security     Hybrid Journal   (Followers: 1)
European J. of Sociology     Hybrid Journal   (Followers: 36, SJR: 0.643, CiteScore: 1)
European Political Science Review     Hybrid Journal   (Followers: 27, SJR: 1.816, CiteScore: 2)
European Review     Hybrid Journal   (Followers: 19, SJR: 0.131, CiteScore: 0)
Evolutionary Human Sciences     Open Access   (Followers: 1)
Experimental Agriculture     Hybrid Journal   (Followers: 14, SJR: 0.542, CiteScore: 1)
Expert Reviews in Molecular Medicine     Hybrid Journal   (Followers: 1, SJR: 1.647, CiteScore: 4)
Fetal and Maternal Medicine Review     Hybrid Journal   (Followers: 6)
Financial History Review     Full-text available via subscription   (Followers: 15, SJR: 0.238, CiteScore: 1)
Foreign Policy Bulletin     Hybrid Journal   (Followers: 6)
Forum of Mathematics, Pi     Open Access   (Followers: 1)
Forum of Mathematics, Sigma     Open Access   (Followers: 1)
Genetics Research     Hybrid Journal   (Followers: 4, SJR: 0.483, CiteScore: 1)
Geological Magazine     Hybrid Journal   (Followers: 16, SJR: 0.966, CiteScore: 2)
Glasgow Mathematical J.     Full-text available via subscription   (SJR: 0.604, CiteScore: 0)
Global Constitutionalism     Hybrid Journal   (Followers: 17)
Global Mental Health     Open Access   (Followers: 9)
Global Sustainability     Open Access   (Followers: 1)
Government and Opposition     Full-text available via subscription   (Followers: 24, SJR: 0.965, CiteScore: 2)
Greece & Rome     Partially Free   (Followers: 30, SJR: 0.113, CiteScore: 0)
Hague J. on the Rule of Law     Full-text available via subscription   (Followers: 14, SJR: 0.271, CiteScore: 1)
Harvard Theological Review     Full-text available via subscription   (Followers: 78, SJR: 0.165, CiteScore: 0)
Health Economics, Policy and Law     Hybrid Journal   (Followers: 29, SJR: 0.745, CiteScore: 1)
Hegel Bulletin     Full-text available via subscription   (Followers: 2)
High Power Laser Science and Engineering     Open Access   (Followers: 3, SJR: 0.901, CiteScore: 3)
Historical J.     Hybrid Journal   (Followers: 39, SJR: 0.247, CiteScore: 1)
History in Africa     Full-text available via subscription   (Followers: 9)
Horizons     Partially Free   (Followers: 1, SJR: 0.129, CiteScore: 0)
Industrial and Organizational Psychology     Hybrid Journal   (Followers: 27, SJR: 0.916, CiteScore: 1)
Infection Control and Hospital Epidemiology     Full-text available via subscription   (Followers: 43, SJR: 1.97, CiteScore: 3)
Intl. & Comparative Law Quarterly     Full-text available via subscription   (Followers: 260, SJR: 0.369, CiteScore: 1)
Intl. Annals of Criminology     Full-text available via subscription  
Intl. J. of Asian Studies     Hybrid Journal   (Followers: 13, SJR: 0.143, CiteScore: 0)
Intl. J. of Astrobiology     Hybrid Journal   (Followers: 4, SJR: 0.548, CiteScore: 1)
Intl. J. of Cultural Property     Full-text available via subscription   (Followers: 13, SJR: 0.253, CiteScore: 1)
Intl. J. of Disability Management Research     Full-text available via subscription   (Followers: 9, SJR: 0.105, CiteScore: 0)
Intl. J. of Law in Context     Hybrid Journal   (Followers: 17, SJR: 0.275, CiteScore: 1)
Intl. J. of Legal Information     Full-text available via subscription   (Followers: 341)
Intl. J. of Microwave and Wireless Technologies     Hybrid Journal   (Followers: 10, SJR: 0.184, CiteScore: 1)
Intl. J. of Middle East Studies     Hybrid Journal   (Followers: 72, SJR: 0.434, CiteScore: 0)
Intl. J. of Technology Assessment in Health Care     Hybrid Journal   (Followers: 14, SJR: 0.714, CiteScore: 1)
Intl. Labor and Working-Class History     Full-text available via subscription   (Followers: 14, SJR: 0.182, CiteScore: 0)
Intl. Organization     Full-text available via subscription   (Followers: 109, SJR: 8.527, CiteScore: 5)
Intl. Psychogeriatrics     Hybrid Journal   (Followers: 12, SJR: 1.048, CiteScore: 2)
Intl. Review of Social History     Full-text available via subscription   (Followers: 27, SJR: 0.315, CiteScore: 1)
Intl. Review of the Red Cross     Full-text available via subscription   (Followers: 13, SJR: 0.214, CiteScore: 0)
Intl. Theory: A J. of Intl. Politics, Law and Philosophy     Hybrid Journal   (Followers: 19, SJR: 2.293, CiteScore: 2)
Iraq     Full-text available via subscription   (Followers: 4)
Irish Historical Studies     Hybrid Journal   (Followers: 7, SJR: 0.103, CiteScore: 0)
Irish J. of Psychological Medicine     Hybrid Journal   (Followers: 2, SJR: 0.221, CiteScore: 0)
Israel Law Review     Hybrid Journal   (Followers: 2, SJR: 0.165, CiteScore: 0)
Italian Political Science Review / Rivista Italiana di Scienza Politica     Hybrid Journal  
Itinerario     Full-text available via subscription   (Followers: 11, SJR: 0.158, CiteScore: 0)
J. of African History     Hybrid Journal   (Followers: 22, SJR: 0.348, CiteScore: 1)
J. of African Law     Full-text available via subscription   (Followers: 3, SJR: 0.113, CiteScore: 0)
J. of Agricultural and Applied Economics     Open Access   (Followers: 3, SJR: 0.263, CiteScore: 1)
J. of Agricultural Science     Full-text available via subscription   (Followers: 8, SJR: 0.563, CiteScore: 1)
J. of American Studies     Hybrid Journal   (Followers: 20, SJR: 0.164, CiteScore: 0)
J. of Anglican Studies     Hybrid Journal   (Followers: 7, SJR: 0.101, CiteScore: 0)
J. of Applied Animal Nutrition     Hybrid Journal   (Followers: 4)
J. of Asian Studies     Full-text available via subscription   (Followers: 42, SJR: 0.591, CiteScore: 1)
J. of Benefit-Cost Analysis     Hybrid Journal   (Followers: 4)
J. of Biosocial Science     Hybrid Journal   (Followers: 5, SJR: 0.48, CiteScore: 1)
J. of British Studies     Full-text available via subscription   (Followers: 32, SJR: 0.246, CiteScore: 0)

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Similar Journals
Journal Cover
Genetics Research
Journal Prestige (SJR): 0.483
Citation Impact (citeScore): 1
Number of Followers: 4  
  Hybrid Journal Hybrid journal (It can contain Open Access articles)
ISSN (Print) 0016-6723 - ISSN (Online) 1469-5073
Published by Cambridge University Press Homepage  [387 journals]
  • Implementation of cell-free DNA-based non-invasive prenatal testing in a
           National Health Service Regional Genetics Laboratory
    • Authors: Fiona S. Togneri; Mark D. Kilby, Elizabeth Young, Samantha Court, Denise Williams, Michael J. Griffiths, Stephanie K. Allen
      Abstract: BackgroundNon-invasive prenatal testing (NIPT) for the detection of foetal aneuploidy through analysis of cell-free DNA (cfDNA) in maternal blood is offered routinely by many healthcare providers across the developed world. This testing has recently been recommended for evaluative implementation in the UK National Health Service (NHS) foetal anomaly screening pathway as a contingent screen following an increased risk of trisomy 21, 18 or 13. In preparation for delivering a national service, we have implemented cfDNA-based NIPT in our Regional Genetics Laboratory. Here, we describe our validation and verification processes and initial experiences of the technology prior to rollout of a national screening service.MethodsData are presented from more than 1000 patients (215 retrospective and 840 prospective) from ‘high- and low-risk pregnancies’ with outcome data following birth or confirmatory invasive prenatal sampling. NIPT was by the Illumina Verifi® test.ResultsOur data confirm a high-fidelity service with a failure rate of ~0.24% and a high sensitivity and specificity for the detection of foetal trisomy 13, 18 and 21. Secondly, the data show that a significant proportion of patients continue their pregnancies without prenatal invasive testing or intervention after receiving a high-risk cfDNA-based result. A total of 46.5% of patients referred to date were referred for reasons other than high screen risk. Ten percent (76/840 clinical service referrals) of patients were referred with ultrasonographic finding of a foetal structural anomaly, and data analysis indicates high- and low-risk scan indications for NIPT.ConclusionsNIPT can be successfully implemented into NHS regional genetics laboratories to provide high-quality services. NHS provision of NIPT in patients with high-risk screen results will allow for a reduction of invasive testing and partially improve equality of access to cfDNA-based NIPT in the pregnant population. Patients at low risk for a classic trisomy or with other clinical indications are likely to continue to access cfDNA-based NIPT as a private test.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000119
      Issue No: Vol. 101 (2019)
  • Genomic data and the dividual self
    • Authors: Ian McGonigle
      Abstract: In response to a recent commentary (Tigard, in press) on my previous article, ‘The Collective Nature of Personalized Medicine’ (McGonigle, 2016), herein I discuss collective responsibilities and rights in relation to the ethics of genomic data and personalized medicine. I respond to and elaborate on some of the issues Tigard raises and I draw on the anthropological concept of ‘dividuality’ to emphasize the precisely shared nature of genomic data in order to illuminate the ethical complexity surrounding their protection. Overall, I argue that genomic data, by virtue of their distributed and shared nature, necessitate novel approaches for bioethical assessment.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000107
      Issue No: Vol. 101 (2019)
  • A permutation method for detecting trend correlations in rare variant
           association studies
    • Authors: Lifeng Liu; Pengfei Wang, Jingbo Meng, Lili Chen, Wensheng Zhu, Weijun Ma
      Abstract: In recent years, there has been an increasing interest in detecting disease-related rare variants in sequencing studies. Numerous studies have shown that common variants can only explain a small proportion of the phenotypic variance for complex diseases. More and more evidence suggests that some of this missing heritability can be explained by rare variants. Considering the importance of rare variants, researchers have proposed a considerable number of methods for identifying the rare variants associated with complex diseases. Extensive research has been carried out on testing the association between rare variants and dichotomous, continuous or ordinal traits. So far, however, there has been little discussion about the case in which both genotypes and phenotypes are ordinal variables. This paper introduces a method based on the γ-statistic, called OV-RV, for examining disease-related rare variants when both genotypes and phenotypes are ordinal. At present, little is known about the asymptotic distribution of the γ-statistic when conducting association analyses for rare variants. One advantage of OV-RV is that it provides a robust estimation of the distribution of the γ-statistic by employing the permutation approach proposed by Fisher. We also perform extensive simulations to investigate the numerical performance of OV-RV under various model settings. The simulation results reveal that OV-RV is valid and efficient; namely, it controls the type I error approximately at the pre-specified significance level and achieves greater power at the same significance level. We also apply OV-RV for rare variant association studies of diastolic blood pressure.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000120
      Issue No: Vol. 101 (2019)
  • Transmembrane emp24 domain proteins in development and disease.
    • Authors: Rachel Aber; Wesley Chan, Sevane Mugisha, Loydie A. Jerome-Majewska
      Abstract: Regulated transport through the secretory pathway is essential for embryonic development and homeostasis. Disruptions in this process impact cell fate, differentiation and survival, often resulting in abnormalities in morphogenesis and in disease. Several congenital malformations are caused by mutations in genes coding for proteins that regulate cargo protein transport in the secretory pathway. The severity of mutant phenotypes and the unclear aetiology of transport protein-associated pathologies have motivated research on the regulation and mechanisms through which these proteins contribute to morphogenesis. This review focuses on the role of the p24/transmembrane emp24 domain (TMED) family of cargo receptors in development and disease.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000090
      Issue No: Vol. 101 (2019)
  • The impact of artificial intelligence on the current and future practice
           of clinical cancer genomics
    • Authors: Olivia Greatbatch; Alice Garrett, Katie Snape
      Abstract: Artificial intelligence (AI) is one of the most significant fields of development in the current digital age. Rapid advancements have raised speculation as to its potential benefits in a wide range of fields, with healthcare often at the forefront. However, amidst this optimism, apprehension and opposition continue to strongly persist. Oft-cited concerns include the threat of unemployment, harm to the doctor–patient relationship and questions of safety and accuracy. In this article, we review both the current and future medical applications of AI within the sub-speciality of cancer genomics.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000089
      Issue No: Vol. 101 (2019)
  • Changing the mindset for precision medicine: from incentivized biobanking
           models to genomic data
    • Authors: Daniel Tigard
      Abstract: The emerging paradigm in contemporary healthcare, precision medicine, is widely seen as a revolutionary approach to both clinical treatment and overall health promotion. Precision models are making use of the most up-to-date technological advancements – such as genomics and ‘big data’ processing – in an effort to tailor healthcare to each individual. Yet the list of hurdles to successful implementation of precision medicine is no secret. Among the challenges, it was recently suggested in this journal that we must change the ‘mindset’ of patients, practitioners and the wider public (McGonigle, 2016). And while precision medicine indeed demands a significant shift, we must not understate the extent of the overhaul required. In particular, I argue, against McGonigle's suggestion, that the ethical challenges regarding participant contributions cannot be tackled by relying upon existing models of incentivized blood banking or organ donation. Instead, the success of precision medicine requires a wholescale change in mindset.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000077
      Issue No: Vol. 101 (2019)
  • In+trans+variant+calling+reveals+enrichment+for+compound+heterozygous+variants+in+genes+involved+in+neuronal+development+and+growth.&rft.title=Genetics+Research&rft.issn=0016-6723&,+Gabriel+Velez,+Vinit+B.+Mahajan,+Polly+J.+Ferguson,+Andrew+Kitchen,+Benjamin+W.+Darbro,+Alexander+G.+Bassuk&rft_id=info:doi/10.1017/S0016672319000065">In trans variant calling reveals enrichment for compound heterozygous
           variants in genes involved in neuronal development and growth.
    • Authors: Allison J. Cox; Fillan Grady, Gabriel Velez, Vinit B. Mahajan, Polly J. Ferguson, Andrew Kitchen, Benjamin W. Darbro, Alexander G. Bassuk
      Abstract: Compound heterozygotes occur when different variants at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of variants at the individual level. We used VarCount to characterize compound heterozygous coding variants in patients with epileptic encephalopathy and in the 1000 Genomes Project participants. The Epi4k data contains variants identified by whole exome sequencing in patients with either Lennox-Gastaut Syndrome (LGS) or infantile spasms (IS), as well as their parents. We queried the Epi4k dataset (264 trios) and the phased 1000 Genomes Project data (2504 participants) for recessive variants. To assess enrichment, transcript counts were compared between the Epi4k and 1000 Genomes Project participants using minor allele frequency (MAF) cutoffs of 0.5 and 1.0%, and including all ancestries or only probands of European ancestry. In the Epi4k participants, we found enrichment for rare, compound heterozygous variants in six genes, including three involved in neuronal growth and development – PRTG (p = 0.00086, 1% MAF, combined ancestries), TNC (p = 0.022, 1% MAF, combined ancestries) and MACF1 (p = 0.0245, 0.5% MAF, EU ancestry). Due to the total number of transcripts considered in these analyses, the enrichment detected was not significant after correction for multiple testing and higher powered or prospective studies are necessary to validate the candidacy of these genes. However, PRTG, TNC and MACF1 are potential novel recessive epilepsy genes and our results highlight that compound heterozygous variants should be considered in sporadic epilepsy.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000065
      Issue No: Vol. 101 (2019)
  • Global Science Meets Ethnic Diversity: Ian McGonigle interviews
           GenomeAsia100k Scientific Chairman Stephan Schuster–ADDENDUM
    • Authors: Ian McGonigle; Stephan C. Schuster
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000053
      Issue No: Vol. 101 (2019)
  • RAF1+S259Y+neomutation&rft.title=Genetics+Research&rft.issn=0016-6723&,+Lilia+Kraoua,+Heather+C.+Etchevers,+Laurent+Argiro,+Nadia+Kasdallah,+Sonia+Blibech,+Valérie+Delague,+Nicolas+Lévy,+Néji+Tebib,+Ridha+Mrad,+Sonia+Abdelhak,+Rym+Benkhalifa,+Stéphane+Zaffran&rft_id=info:doi/10.1017/S0016672319000041">A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic
           cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation
    • Authors: Hager Jaouadi; Amel Ben Chehida, Lilia Kraoua, Heather C. Etchevers, Laurent Argiro, Nadia Kasdallah, Sonia Blibech, Valérie Delague, Nicolas Lévy, Néji Tebib, Ridha Mrad, Sonia Abdelhak, Rym Benkhalifa, Stéphane Zaffran
      Abstract: Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by hypertrophic cardiomyopathy (HCM). We report here a Tunisian patient with a severe phenotype of Noonan syndrome including neonatal HCM, facial dysmorphism, severe failure to thrive, cutaneous abnormalities, pectus excavatum and severe stunted growth, who died in her eighth month of life. Using whole exome sequencing, we identified a de novo mutation in exon 7 of the RAF1 gene: c.776C > A (p.Ser259Tyr). This mutation affects a highly conserved serine residue, a main mediator of Raf-1 inhibition via phosphorylation. To our knowledge the c.776C > A mutation has been previously reported in only one case with prenatally diagnosed Noonan syndrome. Our study further supports the striking correlation of RAF1 mutations with HCM and highlights the clinical severity of Noonan syndrome associated with a RAF1 p.Ser259Tyr mutation.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000041
      Issue No: Vol. 101 (2019)
  • Global science meets ethnic diversity: Ian McGonigle interviews
           GenomeAsia100K Scientific Chairman Stephan Schuster
    • Authors: Ian McGonigle; Stephan C. Schuster
      Abstract: GenomeAsia100K is a human genome project based at Nanyang Technological University in Singapore that aims to sequence one hundred thousand Asian genomes in an effort that addresses an ethnic bias towards Western populations in previous genomic research. GenomeAsia100K consists of a team of bioinformaticians, statisticians and population geneticists, and was initiated by the Nanyang Technological University in collaboration with industrial partners MedGenome (an Indian R&D company specializing in genomic data) and the California Biotech company Genentech. The GenomeAsia100K project is amongst the most ambitious precision medicine projects to date but it is not clear how the project will challenge or reshape understandings of ethnic and racial differences in Asian populations. Ian McGonigle, a scientist and cultural anthropologist, sat down with geneticist Stephan C. Schuster, the scientific chairman of GenomeAsia100K, to discuss the project and the implications of genomics for social identity in the 21st century.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S001667231800006X
      Issue No: Vol. 101 (2019)
  • th+Genetic+Society's+Mammalian+Genetics+and+Development+Workshop+held+at+the+UCL+Great+Ormond+Street+Institute+of+Child+Health,+University+College+London+on+Thursday+29th+November+2018&rft.title=Genetics+Research&rft.issn=0016-6723&">Abstracts of papers presented at the 29th Genetic Society's Mammalian
           Genetics and Development Workshop held at the UCL Great Ormond Street
           Institute of Child Health, University College London on Thursday 29th
           November 2018
    • PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000016
      Issue No: Vol. 101 (2019)
  • Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and
           Silver-Russell syndromes
    • Authors: Deborah J.G. Mackay; Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine, Thomas Eggermann
      Abstract: Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50–70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families.
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S001667231900003X
      Issue No: Vol. 101 (2019)
  • Letter from the New Editor in Chief
    • Authors: Marc Tischkowitz
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672319000028
      Issue No: Vol. 101 (2019)
  • Genetics Research turns a new [open access] leaf…
    • Authors: Mónica B. J. Moniz; Fiona G. Hutton
      PubDate: 2019-01-01T00:00:00.000Z
      DOI: 10.1017/S0016672318000071
      Issue No: Vol. 101 (2019)
School of Mathematical and Computer Sciences
Heriot-Watt University
Edinburgh, EH14 4AS, UK
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