Periodic Variation of Stress in Sputter Deposited Si/WSi2 Multilayers

A tension increment after sputter deposition of 1 nm of WSi2 onto sputtered Si was observed at low Ar gas pressures. Wafer curvature data on multilayers were found to have a periodic variation corresponding to the multilayer period, and this permitted statistical analyses to improve the sensitivity to small stresses. The observation of tension instead of compression in the initial stage of growth is new and a model invoking surface rearrangement is invoked. The data also bear on an unusual surface smoothing phenomena for sputtered Si surfaces caused by the sputter deposition of WSi2 . We furthermore report that for low Ar pressures the Si layers are the predominant source of built-up stress

Pressure-dependent transition from atoms to nanoparticles in magnetron sputtering: Effect on WSi2 film roughness and stress

We report on the transition between two regimes from several-atom clusters to much larger nanoparticles in Ar magnetron sputter deposition of WSi2, and the effect of nanoparticles on the properties of amorphous thin films and multilayers. Sputter deposition of thin films is monitored by in situ x-ray scattering, including x-ray reflectivity and grazing incidence small angle x-ray scattering. The results show an abrupt transition at an Ar background pressure Pc; the transition is associated with the threshold for energetic particle thermalization, which is known to scale as the product of the Ar pressure and the working distance between the magnetron source and the substrate surface. Below Pc smooth films are produced, while above Pc roughness increases abruptly, consistent with a model in which particles aggregate in the deposition flux before reaching the growth surface. The results from WSi2 films are correlated with in situ measurement of stress in WSi2/Si multilayers, which exhibits a corresponding transition from compressive to tensile stress at Pc. The tensile stress is attributed to coalescence of nanoparticles and the elimination of nano-voids.Comment: 16 pages, 10 figures; v3: published versio

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect will depend on both its penetrance and the trait's expressivity. In this regard, an important factor that can modify the effect of a pathogenic coding allele is its level of expression; a factor which itself characteristically changes across tissues. To better inform the degree to which pathogenic alleles can be modified by expression level across multiple tissues, we have conducted exome, RNA and deep, targeted allele-specific expression (ASE) sequencing in ten tissues obtained from a single individual. By combining such data, we report the impact of rare and common loss-of-function variants on allelic expression exposing stronger allelic bias for rare stop-gain variants and informing the extent to which rare deleterious coding alleles are consistently expressed across tissues. This study demonstrates the potential importance of transcriptome data to the interpretation of pathogenic protein-coding variants

Can Inoculation Withstand Multiple Attacks?: An Examination of the Effectiveness of the Inoculation Strategy Compared to the Supportive and Restoration Strategies

This investigation introduced multiple competitive attacks in order to assess the effectiveness of inoculation treatments in protecting established attitudes in a natural setting. A four-phase experiment was conducted involving 433 participants. The results revealed that the effectiveness of refutational inoculation messages dissipated some in the face of an additional attack. Still, refutational inoculation messages proved to be more effective than supportive, restoration, and control (no message) conditions in protecting established attitudes in the face of multiple attacks. The content of an additional attack (the same as the first attack or different) did not affect the capacity of inoculation refutational messages to confer resistance to competitive attacks.Yeshttps://us.sagepub.com/en-us/nam/manuscript-submission-guideline

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of diseas

Population- and individual-specific regulatory variation in Sardinia

Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.M.P. is supported by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreement 633964 (ImmunoAgeing). Z.Z. is supported by the National Science Foundation (NSF) GRFP (DGE- 114747) and by the Stanford Center for Computational, Evolutionary, and Human Genomics (CEHG). Z.Z., J.R.D., and G.T.H. also acknowledge support from the Stanford Genome Training Program (SGTP; NIH/NHGRI T32HG000044). J.R.D. is supported by the Stanford Graduate Fellowship. K.R.K. is supported by Department of Defense, Air Force Office of Scientific Research, National Defense Science and Engineering Graduate (NDSEQ) Fellowship 32 CFR 168a. S.J.S. is supported by the NIHR Cambridge Biomedical Research Centre. The SardiNIA project is supported in part by the intramural program of the National Institute on Aging through contract HHSN271201100005C to the Consiglio Nazionale delle Ricerche of Italy. The RNA sequencing was supported by the PB05 InterOmics MIUR Flagship grant; by the FaReBio2011 “Farmaci e Reti Biotecnologiche di Qualità” grant; and by Sardinian Autonomous Region (L.R. no. 7/2009) grant cRP3-154 to F. Cucca, who is also supported by the Italian Foundation for Multiple Sclerosis (FISM 2015/R/09) and by the Fondazione di Sardegna (ex Fondazione Banco di Sardegna, Prot. U1301.2015/AI.1157.BE Prat. 2015-1651). S.B.M. is supported by the US National Institutes of Health through R01HG008150, R01MH101814, U01HG007436, and U01HG009080. All of the authors would like to thank the CRS4 and the SCGPM for the computational infrastructure supporting this project

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease

Screening for marginal food security in young children in primary care

Abstract Background Household food insecurity (FI), even at marginal levels, is associated with poor child health outcomes. The Nutrition Screening Tool for Every Preschooler (NutriSTEP®) is a valid and reliable 17-item parent-completed measure of nutrition risk and includes a single item addressing FI which may be a useful child-specific screening tool. We evaluated the diagnostic test properties of the single NutriSTEP® FI question using the 2-item Hunger Vital Sign™ as the criterion measure in a primary care population of healthy children ages 18 months to 5 years. Results The sample included 1174 families, 53 (4.5%) of which were marginally food secure. An affirmative response to the single NutriSTEP® question “I have difficulty buying food I want to feed my child because food is expensive” had a sensitivity of 85% and specificity of 91% and demonstrated good construct validity when compared with the Hunger Vital Sign™. Conclusion The single NutriSTEP® question may be an effective screening tool in clinical practice to identify marginal food security in families with young children and to link families with community-based services or financial assistance programs including tax benefits. Trial registration TARGet Kids! practice-based research network (Registered June 5, 2013 at www.clinicaltrials.gov ; NCT01869530); www.targetkids.caFunding to support TARGet Kids! was provided by multiple sources including the Canadian Institutes for Health Research (CIHR), namely the Institute of Human Development, Child and Youth Health [No. FRN 114945 to JLM, No. FRN 115059 to PCP] and the Institute of Nutrition, Metabolism and Diabetes [No. FRN 119375 to CSB], as well as, the St. Michael’s Hospital Foundation. The Paediatric Outcomes Research Team (PORT) is supported by a grant from The Hospital for Sick Children Foundation