Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1). Through analysis of de novo mutations in autism spectrum disorder (ASD), Sanders et al. find that small deletions, but not large deletions/duplications, contain one critical gene. Combining CNV and sequencing data, they identify 6 loci and 65 genes associated with ASD. © 2015 Elsevier Inc

Amadurecimento de filtros lentos de areia e remoção de microrganismos indicadores de qualidade da água ao longo da profundidade do leito: uma avaliação em instalação piloto Maturation of slow sand filters and removal of microorganisms' indicators of water quality along the media depth: an evaluation in pilot plant

O potencial da filtração lenta como opção tecnológica para o tratamento de água nos países em desenvolvimento e sua capacidade de remoção de contaminantes, sobretudo patogênicos, são reconhecidos. Contudo, ainda permanece incompleto o conhecimento acerca dos mecanismos que predominantemente atuam na remoção dos microrganismos. Objetivando avançar nessa compreensão, desenvolveu-se uma investigação experimental, em unidades piloto, em filtros lentos de areia com escoamento descendente e ascendente, operados com água sintética e duas taxas de filtração (3 e 6m³/m2.d). A retenção dos microrganismos indicadores foi avaliada em cinco camadas, com 0,15 m de espessura cada, em dois momentos da carreira. A maturidade biológica do leito filtrante foi menos favorecida pela taxa mais alta de filtração e pelo fluxo ascendente. Os 0,45 m iniciais do leito filtrante foram importantes na remoção de microrganismos sob as condições estudadas, mas a remoção não se restringiu a estas camadas, tendo sido observada para todos os indicadores retenção nas camadas de 0,45-0,60 m e de 0,60-0,75 m. A schmutzdecke parece desempenhar papel efetivo na remoção de indicadores microbiológicos apenas quando bem desenvolvida. Há uma indicação de que a camada suporte exerce algum papel na retenção de sólidos e microrganismos no fluxo ascendente.<br>The potential of the slow sand filtration as technological option for drinking-water treatment in developing countries and its capacity of contaminants removal, mainly pathogens, are recognized.However, the knowledge concerning the predominant mechanisms that act in microorganism's removal still remains incomplete. Aiming to advance in the understanding of these themes, an experimental investigation was carried out, working with pilot plants of downflow and upflow slow sand filters, operated with synthetic water and two filtration rates (3 and 6 m³/m².d). The microorganisms indicators removal was evaluated in five layers, with 0.15 m of thickness each, in two run phases. The biological maturation of the filter media was less favoured by the highest rate and by the upflow filter. The initial 0.45 m of the filter media were important in the microorganism's removal in the conditions evaluated, but removal was not limited to these layers, since all indicators were retained also in 0.45-0.60 m and 0.60-0.75 m layers, in different proportions among the filter runs.The schmutzdecke seems to play an effective role in the microbiological indicators removal only when well developed. an indication of the role of the support layer in solids and microorganisms retention was observed in the upflow filter