Source Mechanism and Seismic Effect of Tangshan Earthquake

By analyzing the seismic mechanism of the Tangshan earthquake and its pattern of movement through the study of ground deformation and ground strain of the Tangshan earthquake area it is clear that the breeding and occurrence of this event are controlled by a long-term intense active fault zone. By the ground deformation, displacement, tectonic features and seismic effects after the event, this causative fault is known to be composed of a group of NNE trending right turn strike-slip faults and thus we call it the Tangshan active fault zone

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

Exome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome variants to very small numbers of candidate variants in the proof-of-concept examples. The proposed framework, implemented in a user-friendly software package, named KGGSeq (http://statgenpro.psychiatry.hku.hk/kggseq), will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes

Discutindo a educação ambiental no cotidiano escolar: desenvolvimento de projetos na escola formação inicial e continuada de professores

A presente pesquisa buscou discutir como a Educação Ambiental (EA) vem sendo trabalhada, no Ensino Fundamental e como os docentes desta escola compreendem e vem inserindo a EA no cotidiano escolar., em uma escola estadual do município de Tangará da Serra/MT, Brasil. Para tanto, realizou-se entrevistas com os professores que fazem parte de um projeto interdisciplinar de EA na escola pesquisada. Verificou-se que o projeto da escola não vem conseguindo alcançar os objetivos propostos por: desconhecimento do mesmo, pelos professores; formação deficiente dos professores, não entendimento da EA como processo de ensino-aprendizagem, falta de recursos didáticos, planejamento inadequado das atividades. A partir dessa constatação, procurou-se debater a impossibilidade de tratar do tema fora do trabalho interdisciplinar, bem como, e principalmente, a importância de um estudo mais aprofundado de EA, vinculando teoria e prática, tanto na formação docente, como em projetos escolares, a fim de fugir do tradicional vínculo “EA e ecologia, lixo e horta”.Facultad de Humanidades y Ciencias de la Educació

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

<div><p>Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in these studies. Combining multiple functional prediction methods may increase accuracy in prediction. Here, we propose to use a logit model to combine multiple prediction methods and compute an unbiased probability of a rare variant being pathogenic. Also, for the first time we assess the predictive power of seven prediction methods (including SIFT, PolyPhen2, CONDEL, and logit) in predicting pathogenic nsSNVs from other rare variants, which reflects the situation after MAF filtering is done in exome-sequencing studies. We found that a logit model combining all or some original prediction methods outperforms other methods examined, but is unable to discriminate between autosomal dominant and autosomal recessive disease mutations. Finally, based on the predictions of the logit model, we estimate that an individual has around 5% of rare nsSNVs that are pathogenic and carries ∼22 pathogenic derived alleles at least, which if made homozygous by consanguineous marriages may lead to recessive diseases.</p> </div

Theoretical inbreeding coefficient (<i>F</i>) and corresponding number of homozygous pathogenic variants in the children of various relationships, given that on average each individual carries 22 pathogenic derived alleles.

<p>Theoretical inbreeding coefficient (<i>F</i>) and corresponding number of homozygous pathogenic variants in the children of various relationships, given that on average each individual carries 22 pathogenic derived alleles.</p

The numbers and proportion of nsSNVs removed by hard-filtering and functional prediction by the logit model in 3 Mendelian-disease patients with in-house exome sequencing data.

a<p>Related cases with autosomal dominant spinocerebellar ataxia.</p>b<p>Case with neonatal-onset Crohn's disease.</p>c<p>nsSNVs in which prediction is unavailable due to missing scores.</p

Mann–Whitney <i>U</i> test <i>p</i> values for the difference in prediction scores between autosomal dominant and autosomal recessive disease-causing mutations.

<p>Mann–Whitney <i>U</i> test <i>p</i> values for the difference in prediction scores between autosomal dominant and autosomal recessive disease-causing mutations.</p

ROC and PR curves of prediction methods evaluated on the ExoVar dataset using a 10-fold cross-validation.

<p>(a) ROC and (b) PR. AUC is shown next to the name of each method.</p