Rare variant collapsing in conjunction with mean log p-value and gradient boosting approaches applied to Genetic Analysis Workshop 17 data

In addition to methods that can identify common variants associated with susceptibility to common diseases, there has been increasing interest in approaches that can identify rare genetic variants. We use the simulated data provided to the participants of Genetic Analysis Workshop 17 (GAW17) to identify both rare and common single-nucleotide polymorphisms and pathways associated with disease status. We apply a rare variant collapsing approach and the usual association tests for common variants to identify candidates for further analysis using pathway-based and tree-based ensemble approaches. We use the mean log p-value approach to identify a top set of pathways and compare it to those used in simulation of GAW17 dataset. We conclude that the mean log p-value approach is able to identify those pathways in the top list and also related pathways. We also use the stochastic gradient boosting approach for the selected subset of single-nucleotide polymorphisms. When compared the result of this tree-based method with the list of single-nucleotide polymorphisms used in dataset simulation, in addition to correct SNPs we observe number of false positives

The risk of subjective symptoms in mobile phone users in Poland – An epidemiological study

Objectives: To assess the type and incidence of subjective symptoms related to the use of mobile phones in Polish users. Material and Methods: The study was conducted in 2005 using a questionnaire survey. Although it has been quite a long time, up to now, no such data have been published for Poland. The questionnaire consisted of 53 questions concerning sex, age, education, general health, characteristics of a mobile phone (hand-held, loud-speaking unit) as well as the habits associated with its use (frequency and duration of calls, text messages, etc.) and complaints associated with using a mobile phone. Results: As many as 1800 questionnaires were sent. The response was obtained from 587 subjects aged 32.6±11.3 (48.9% women, 51.1% men); the age did not differ significantly between men and women. The subjects owned a cell phone for an average of 3 years. Majority of the respondents used the phone intensively, i.e. daily (74%) or almost daily (20%). Headaches were reported significantly more often by the people who talked frequently and long in comparison with other users (63.2% of the subjects, p = 0.0029), just like the symptoms of fatigue (45%, p = 0.013). Also, the feeling of warmth around the ear and directly to the auricle was reported significantly more frequently by the intensive mobile phone users, compared with other mobile phone users (47.3%, p = 0.00004 vs. 44.6%, p = 0.00063, respectively). Most symptoms appeared during or immediately after a call and disappeared within 2 h after the call. Continuous headache, persisting for longer than 6 h since the end of a call, was reported by 26% of the subjects. Conclusions: Our results show that the mobile phone users may experience subjective symptoms, the intensity of which depends on the intensity of use of mobile phones

‘Perceptions of non-accidental child deaths as preventable events: The impact of probability heuristics and biases on child protection work'

Anxiety about the possibility of non-accidental deaths of children has had a major influence on child care policy and practice over the last 40 years. The formal inquiry reports and media coverage of these rare events serve to maintain the perception that these are regular incidents that happen far too often and that they could have been prevented. This focus on individual events tends to distort a clear view of the actual probability of non-accidental deaths and serves to reinforce the notion that potentially all child care cases are risky and that any social work practitioner could be involved in such a case. As a result, work with children has become highly risk averse. However, in statistical terms, the probability of non-accidental child deaths is very low and recently has averaged about 55 deaths a year. Children are at considerably higher risk of being killed on the roads. This paper examines the way in which perceptions of the ‘high’ level of risk of possible child deaths are maintained despite the very low statistical probability of such incidents. It draws on thinking from behavioural psychology and, in particular the work of Kahneman and Tversky, to consider some of the biases in probability reasoning affecting people’s perception of risk and explores how inquiry reports into single past events reconfirm risk perceptions. It is suggested that recognition of the essentially unpredictable nature of future non-accidental child deaths would free up childcare professionals to work in a more positive and less risk-averse manner in the present