Design of a Bovine Low-Density SNP Array Optimized for Imputation

The Illumina BovineLD BeadChip was designed to support imputation to higher density genotypes in dairy and beef breeds by including single-nucleotide polymorphisms (SNPs) that had a high minor allele frequency as well as uniform spacing across the genome except at the ends of the chromosome where densities were increased. The chip also includes SNPs on the Y chromosome and mitochondrial DNA loci that are useful for determining subspecies classification and certain paternal and maternal breed lineages. The total number of SNPs was 6,909. Accuracy of imputation to Illumina BovineSNP50 genotypes using the BovineLD chip was over 97% for most dairy and beef populations. The BovineLD imputations were about 3 percentage points more accurate than those from the Illumina GoldenGate Bovine3K BeadChip across multiple populations. The improvement was greatest when neither parent was genotyped. The minor allele frequencies were similar across taurine beef and dairy breeds as was the proportion of SNPs that were polymorphic. The new BovineLD chip should facilitate low-cost genomic selection in taurine beef and dairy cattle

Exploring the experiences of being an ethnic minority student within undergraduate nurse education: A qualitative study

© 2019 The Author(s). Background: Students studying in a country where another language is spoken face multiple challenges including their ability to fully integrate with peers and academic pressures in trying to obtain an undergraduate nursing degree. The aim of the study was to explore the lived experiences of students, from varying cultural and ethnic backgrounds, undertaking an undergraduate nursing degree. Methods: The study adopted a qualitative design and eight individual semi-structured interviews were conducted. The interviews were analysed using manifest content analysis according to Graneheim and Lundman. Results: Students reported feelings of isolation and the lack of opportunities to integrate with native students within academia and practice. The need for personal support was a crucial factor that was independent of gender and students reported challenges related to both language and culture during the programme. Conclusions: Suggestions arising from this study includes appropriate support systems within academia and practice. It is imperative that universities and practice settings promote and integrate cultural awareness within academia and practice in meeting the needs of students and providing culturally appropriate nursing care, thereby providing opportunities for all students to become competent and professional practitioners

Deficient maternal care resulting from immunological stress during pregnancy is associated with a sex-dependent enhancement of conditioned fear in the offspring

Activation of maternal stress response systems during pregnancy has been associated with altered postpartum maternal care and subsequent abnormalities in the offspring’s brain and behavioral development. It remains unknown, however, whether similar effects may be induced by exposure to immunological stress during pregnancy. The present study was designed to address this issue in a mouse model of prenatal immune activation by the viral mimic polyriboinosinic–polyribocytidilic acid (PolyI:C). Pregnant mice were exposed to PolyI:C-induced immune challenge or sham treatment, and offspring born to PolyI:C- and sham-treated dams were simultaneously cross-fostered to surrogate rearing mothers, which had either experienced inflammatory or vehicle treatment during pregnancy. We evaluated the effects of the maternal immunological manipulation on postpartum maternal behavior, and we assessed the prenatal and postnatal maternal influences on anxiety- and fear-related behavior in the offspring at the peri-adolescent and adult stage of development. We found that PolyI:C treatment during pregnancy led to changes in postpartum maternal behavior in the form of reduced pup licking/grooming and increased nest building activity. Furthermore, the adoption of neonates by surrogate rearing mothers, which had experienced PolyI:C-induced immunological stress during pregnancy, led to enhanced conditioned fear in the peri-adolescent and adult offspring, an effect that was exclusively seen in female but not male subjects. Unconditioned (innate) anxiety-related behavior as assessed in the elevated plus maze and open field explorations tests were not affected by the prenatal and postnatal manipulations. Our results thus highlight that being raised by gestationally immune-challenged surrogate mothers increases the vulnerability for specific forms of fear-related behavioral pathology in later life, and that this association may be mediated by deficits in postpartum maternal care. This may have important implications for the identification and characterization of early-life risk factors involved in the developmental etiology of fear-related neuropsychiatric disorders

“Whoa! we’re going deep in the trees!”: patterns of collaboration around an interactive information visualization exhibit

In this paper we present a qualitative analysis of natural history museum visitor interaction around a multi-touch tabletop exhibit called DeepTree that we designed around concepts of evolution and common descent. DeepTree combines several large scientific datasets and an innovative visualization technique to display a phylogenetic tree of life consisting of over 70,000 species. After describing our design, we present a study involving pairs of children interacting with DeepTree in two natural history museums. Our analysis focuses on two questions. First, how do dyads negotiate their moment-to-moment exploration of the exhibit? Second, how do dyads develop and negotiate their understanding of evolutionary concepts? In order to address these questions we present an analytical framework that describes dyads’ exploration along two dimensions: coordination and target of action. This framework reveals four distinct patterns of interaction, which, we argue, are relevant for similar interactive designs. We conclude with a discussion of the role of design in helping visitors make sense of interactive experiences involving the visualization of large scientific datasets

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.European Journal of Human Genetics advance online publication, 11 January 2017; doi:10.1038/ejhg.2016.199