The effects of different competitive situations on the political content of daily newspapers

The value of the daily newspaper to the individuals who read it is at the core of this study. Some have felt that the newspaper has been affected for the worse by a loss in competition in many communities. Their worries often centre on the effects that the loss could have on the role of a newspaper and on its responsibilities to the public. The previous research on this topic has failed to turn up evidence of a substantial difference between monopoly and competitive newspapers. Canadian works on this subject were scant and, in light of the report of the Royal Commission on Newspapers (mainly inconclusive on this topic), this study attempted to look at the question of the effects of different competitive situations on the political content of the daily newspaper. The study limited itself to the examination of political news stories because it was felt that in this area, differences that would occur would have a greater impact on the lives of the readers than differences in the non-political section. The Canadian newspaper situation presented the opportunity to study two newspapers which had recently experienced opposite changes in the degree of competitiveness of the market they were in. The Edmonton Journal faced an increase in competition and the Ottawa Citizen was left in a monopoly situation. The study examined both newspapers in monopoly and competitive times. This, it was hoped, would allow the study to make conclusions about the effects of different competitive situations on the political content of the newspaper. The political content was broken down into three areas, political news stories, editorials and political comment and letters to the editor. These areas were examined using both qualitative and quantitative content analysis. Measures were created and tested to allow for the study of the effects of different competitive situations. The thesis adopted here was that no differences would be found in either newspaper that was statistically significant or consistent across the two competitive times. The results bear this out. In none of the categories were results achieved that discounted the thesis. A few isolated differences were reported, but often they were not statistically significant and they were rarely similar across the two newspapers. Thus, practically the monopoly newspaper does not appear to be a worse newspaper than the competitive newspaper. The study concludes that currently, the competitive status of a newspaper is not a major factor affecting political content of the newspaper

A study of disabled children and child protection in Scotland - a hidden group?

This paper is based on analysis of data collected for a study, commissioned by the Scottish Government, which examined child protection work with disabled children. At a conceptual level, the paper draws on Goffman's frame analysis and on different models of disability. Focus groups were conducted with five Child Protection Committees (40 individuals) and semi-structured interviews with a further 21 practitioners from social work, education, health services, third sector organisations and the police. The findings show that, for various reasons, abuse of disabled children may go undetected. Where it is suspected, effective action does not always follow, for example, where practitioners over-empathise with parents. When child protection work is undertaken, disabled children may remain relatively invisible in terms of participation and professional focus. It is suggested that the ways in which practitioners and managers “frame” disabled children has implications for how abuse is responded to and how well these children are protected. Participants also “framed” disability in different ways, and it is suggested that a social relational model seems particularly applicable. In conclusion, in many respects disabled children experiencing abuse may remain absent from or to some extent hidden within child protection services in Scotland. While some creative work is taking place, considerable changes are required to make child protection services accessible to all disabled children, sensitive to their needs and respectful of their rights

Deaf and disabled children talking about child protection (Short Report)

This report summarises the findings of original research commissioned by the National Society for the Prevention of Cruelty to Children (NSPCC) carried out by the University of Edinburgh/NSPCC Child Protection Research Centre to address a significant gap in current understandings of deaf and disabled children and young people's experiences of the child protection system

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation accuracy at rare and low-frequency variants in both a UK and an Italian population. We show that large increases in imputation accuracy can be achieved by re-phasing WGS reference panels after initial genotype calling. We also present a method for combining WGS panels to improve variant coverage and downstream imputation accuracy, which we illustrate by integrating 7,562 WGS haplotypes from the UK10K project with 2,184 haplotypes from the 1000 Genomes Project. Finally, we introduce a novel approximation that maintains speed without sacrificing imputation accuracy for rare variants

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Mouse genomic variation and its effect on phenotypes and gene regulation

We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten times more variants than previously known. We use these genomes to explore the phylogenetic history of the laboratory mouse and to examine the functional consequences of allele-specific variation on transcript abundance, revealing that at least 12% of transcripts show a significant tissue-specific expression bias. By identifying candidate functional variants at 718 quantitative trait loci we show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus. These sequences provide a starting point for a new era in the functional analysis of a key model organism

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tiina Paunio on työryhmän UK10K jäsen.The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.Peer reviewe

Whole-genome sequence-based analysis of thyroid function

Tiina Paunio on työryhmän UK10K Consortium jäsen.Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N = 2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF >= 1%) associated with TSH and FT4 (N = 16,335). For TSH, we identify a novel variant in SYN2 (MAF = 23.5%, P = 6.15 x 10(-9)) and a new independent variant in PDE8B (MAF = 10.4%, P = 5.94 x 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/ SLC25A52 (MAF = 3.2%, P = 1.27 x 10(-9)) tagging a rare TTR variant (MAF = 0.4%, P = 2.14 x 10(-11)). All common variants explain >= 20% of the variance in TSH and FT4. Analysis of rare variants (MAFPeer reviewe

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Disabled Children and Child Protection in Scotland : An Investigation into the Relationship between Professional Practice, Child Protection and Disability

This project was commissioned by the Scottish Government Children's Rights and Wellbeing Division to investigate the relationship between disabled children and child protection practice. Through interviews and focus groups the researchers spoke with 61 professionals working on issues of disabled children and child protection in Scotland. Disabled children are more likely to be abused than their non-disabled peers, but there is evidence to suggest that the abuse of disabled children sometimes goes undetected. Getting it right for every child does not mean treating every child the same. There is a lack of confidence in working with disabled children, a lack of relevant training and variability in thresholds for action. Whilst there are positive aspects, this research shows that the child protection system is a cause for concern in relation to disabled children