All-in-one whole exome sequencing strategy with simultaneous copy number variant,single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Objective

We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.

Methods

After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.

Results

In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.

Conclusion

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.     

Coping with Complexity,Uncertainty and Ambiguity in Risk Governance: A Synthesis

The term governance describes the multitude of actors and processes that lead to collectively binding decisions. The term risk governance translates the core principles of governance to the context of risk-related policy making. We aim to delineate some basic lessons from the insights of the other articles in this special issue for our understanding of risk governance. Risk governance provides a conceptual as well as normative basis for how to cope with uncertain, complex and/or ambiguous risks. We propose to synthesize the breadth of the articles in this special issue by suggesting some changes to the risk governance framework proposed by the International Risk Governance Council (IRGC) and adding some insights to its analytical and normative implications.     

Uncertainty in integrated assessment: A social scientific perspective

In the context of integrated assessment, the authors address the issue of uncertainty and subjectivity in modelling. In relating bias to different perspectives, the authors introduce the methodology of multiple model routes, which are reflections of different perceptions of reality and various policy preferences. As heuristic they use three perspectives, which are distinguished in cultural theory. The article describes case-studies on the population and health controversy in order to illustrate the possibilities of their approach. The article concludes with discussing the lessons learned by applying this methodology.     

Organizational career development is not dead: a case study on managing the new career during organizational change

New forms of careers have received increased attention in contemporary organizational research. A prominent focus in this research has been whether and how, in an increasingly unpredictable career environment, individuals are taking responsibility for their own career development. The implication is that career is becoming less central to organizational management practices. At the same time there is evidence that organizational changes typically described in this literature (such as delayering the organization in a quest for flexibility) have had a negative impact on career progress, resulting in resistance to change. The implication here is that career concerns are more central to organizational management practices. This in‐depth qualitative case study examines whether individuals do in fact take more responsibility for their career development during times of organizational change. We also examine whether this does indeed mean that the organization takes less responsibility for career management. Our data indicate that individuals are, in fact, taking more responsibility for their own careers. At the same time we found that the organization in our case study also became more actively involved in career development and management. However, this active approach did not resemble traditional top‐down career management and development. To us, the pattern of organizational and individual career development actions appear to constitute a kind of ‘organizational dance,’ a highly interactive mutual influence process, in which both parties are at once the agent and the target of career influence. Strengths and limitations of the study are discussed, as are directions for future research. Copyright © 2007 John Wiley & Sons, Ltd.     

Institutional reform in the Andean irrigation sector: Enabling policies for strengthening local rights and water management

For centuries, local and indigenous water rights and rules in the Andean region have been largely neglected and discriminated against. The process of undermining local communities’ water access and control rights continues up to today and not only is it headed by powerful local, national and international water‐use actors encroaching local rights — it is also a direct consequence of vertical State law and intervention practices, and the latest privatization policies. Recognition of and security for the diverse and dynamic local rights and management frameworks is crucial for improving rural livelihoods and even national food security in Andean countries. At the request of the Government of Ecuador — in which at that time the indigenous movement had its political participation — a research mission was organized to formulate a proposal for institutional reform, aiming at the strengthening of the national irrigation sector. In this article, some basic mission results are outlined and analyzed within the scope of four concepts (institutional viability, political democracy, equity, and water rights security), and practical elements for institutional reform are suggested, not only for the Ecuadorian irrigation sector but also other settings. The complementary roles of central Government, local governments and water user organizations in water resources management are emphasized as is the need to strengthen enabling legal and policy frameworks. The importance of translating constitutional recognition of local and indigenous rights and common property systems into practical procedures and institutional structures is also stressed.     

Identification of disinfection by-product precursors by natural organic matter fractionation: a review

Environmental Chemistry Letters - During disinfection of drinking water, natural organic matter reacts with chlorine to produce harmful disinfection by-products. The...     

Maturation of work attitudes: Correlated change with big five personality traits and reciprocal effects over 15 years

As employees grow older, do their attitudes regarding work change over time? Can such long‐term changes be understood from a personality development perspective? The present study addressed these fundamental questions by tracking 504 young professionals' work attitudes (i.e., job satisfaction and work involvement) and Big Five personality traits over the first 15 years of their professional career. We specifically investigated whether trait changes drive peoples' changing attitudes, a mechanism we called maturation of work attitudes. Latent change models first indicated significant associations between traits and attitudes at the beginning of the career, and mean‐level changes in Big Five traits (i.e., increases in Agreeableness and Conscientiousness and decreases in Neuroticism) in the direction of greater functional maturity. Although no significant mean‐level changes in work attitudes were observed, results regarding correlated change indicated that variability in attitude change was related to variability in trait change and that this indeed signaled a maturational process. Finally, reciprocal effect estimates highlighted bidirectional relations between personality and attitudes over time. It is discussed how these results (i) provide a better understanding of potential age effects on work‐related attitudes and (ii) imply a revision of the traditional dispositional approach to attitudes. Copyright © 2013 John Wiley & Sons, Ltd.     

Informed and uninformed public opinions on CO2 capture and storage technologies in the Netherlands

Two research methods were used in this study to analyze the awareness and perception of the Dutch general public regarding Carbon dioxide Capture and Storage (CCS). In an Information-Choice Questionnaire (ICQ), a representative sample of the Dutch public (n = 995) was provided with all information on attributes of six CCS options, which experts deemed necessary to come to well-considered and well-informed opinions. A traditional questionnaire was used simultaneously (n = 327) to study uninformed evaluations of these technologies. The results showed that the Dutch public is mostly unaware of CCS and has little knowledge about how current energy use causes global warming. Uninformed respondents are still inclined to give their opinion however, which results in unpredictive, easily changeable opinions. ICQ respondents who processed information on attributes of CCS options were likely to base their option evaluations on this information, though not entirely. All in all, the results of the ICQ suggest that, after processing information deemed necessary by experts, Dutch people reluctantly agree with large scale implementation of each of the six CCS options.