2015
Authors
Gomes, EF; Batista, F;
Publication
Abstract
2015
Authors
Tavares, PC; Gomes, EF; Henriques, PR;
Publication
2015 10TH IBERIAN CONFERENCE ON INFORMATION SYSTEMS AND TECHNOLOGIES (CISTI)
Abstract
Learning programming is a complex task that poses significant challenges. Students face different kinds of difficulties at complex levels that traditional teaching/learning methods are nor able to cope with. For this reason, several authors have researched the pedagogical effectiveness of program visualization and animation, and developed some tools. Animation can help students on the analysis and understanding of given programs, and can also guide on the development of new ones. It is very important to give students the opportunity to practice solving programming exercises by themselves. Receiving feedback is essential for knowledge acquisition. New tools arose ( especially in the area of programming contests) to allow for the submission of solutions ( programs developed by the students) to the problem statements presented by the teacher and to assess them, returning immediately information about the submitted answer. These tools can be incorporated into teaching activities, allowing students to test their work getting immediate feedback. Automatic evaluation systems significantly improve students performance. In this article are shown these two approaches, animation and automatic assessment, and proposed a new pedagogical practice resulting from the combination of both.
2015
Authors
Yang J.; Huang T.; Petralia F.; Long Q.; Zhang B.; Argmann C.; Zhao Y.; Mobbs C.V.; Schadt E.E.; Zhu J.; Tu Z.; Ardlie K.G.; Deluca D.S.; Segrè A.V.; Sullivan T.J.; Young T.R.; Gelfand E.T.; Trowbridge C.A.; Maller J.B.; Tukiainen T.; Lek M.; Ward L.D.; Kheradpour P.; Iriarte B.; Meng Y.; Palmer C.D.; Winckler W.; Hirschhorn J.; Kellis M.; MacArthur D.G.; Getz G.; Shablin A.A.; Li G.; Zhou Y.H.; Nobel A.B.; Rusyn I.; Wright F.A.; Lappalainen T.; Ferreira P.G.; Ongen H.; Rivas M.A.; Battle A.; Mostafavi S.; Monlong J.; Sammeth M.; Mele M.; Reverter F.; Goldman J.; Koller D.; Guigo R.; McCarthy M.I.; Dermitzakis E.T.; Gamazon E.R.; Konkashbaev A.; Nicolae D.L.; Cox N.J.; Flutre T.; Wen X.; Stephens M.; Pritchard J.K.; Lin L.; Liu J.; Brown A.; Mestichelli B.; Tidwell D.; Lo E.; Salvatore M.; Shad S.; Thomas J.A.; Lonsdale J.T.; Choi C.; Karasik E.; Ramsey K.; Moser M.T.; Foster B.A.; Gillard B.M.; Syron J.; Fleming J.; Magazine H.; Hasz R.; Walters G.D.; Bridge J.P.; Miklos M.; Sullivan S.; Barker L.K.; Traino H.; Mosavel M.; Siminoff L.A.; Valley D.R.; Rohrer D.C.; Jewel S.; Branton P.; Sobin L.H.; Qi L.; Hariharan P.; Wu S.; Tabor D.; Shive C.; Smith A.M.; Buia S.A.;
Publication
Scientific Reports
Abstract
Aging is one of the most important biological processes and is a known risk factor for many age-related diseases in human. Studying age-related transcriptomic changes in tissues across the whole body can provide valuable information for a holistic understanding of this fundamental process. In this work, we catalogue age-related gene expression changes in nine tissues from nearly two hundred individuals collected by the Genotype-Tissue Expression (GTEx) project. In general, we find the aging gene expression signatures are very tissue specific. However, enrichment for some well-known aging components such as mitochondria biology is observed in many tissues. Different levels of cross-tissue synchronization of age-related gene expression changes are observed, and some essential tissues (e.g., heart and lung) show much stronger "co-aging" than other tissues based on a principal component analysis. The aging gene signatures and complex disease genes show a complex overlapping pattern and only in some cases, we see that they are significantly overlapped in the tissues affected by the corresponding diseases. In summary, our analyses provide novel insights to the co-regulation of age-related gene expression in multiple tissues; it also presents a tissue-specific view of the link between aging and age-related diseases.
2015
Authors
Borel, C; Ferreira, PG; Santoni, F; Delaneau, O; Fort, A; Popadin, KY; Garieri, M; Falconnet, E; Ribaux, P; Guipponi, M; Padioleau, I; Carninci, P; Dermitzakis, ET; Antonarakis, SE;
Publication
American Journal of Human Genetics
Abstract
The study of gene expression in mammalian single cells via genomic technologies now provides the possibility to investigate the patterns of allelic gene expression. We used single-cell RNA sequencing to detect the allele-specific mRNA level in 203 single human primary fibroblasts over 133,633 unique heterozygous single-nucleotide variants (hetSNVs). We observed that at the snapshot of analyses, each cell contained mostly transcripts from one allele from the majority of genes; indeed, 76.4% of the hetSNVs displayed stochastic monoallelic expression in single cells. Remarkably, adjacent hetSNVs exhibited a haplotype-consistent allelic ratio; in contrast, distant sites located in two different genes were independent of the haplotype structure. Moreover, the allele-specific expression in single cells correlated with the abundance of the cellular transcript. We observed that genes expressing both alleles in the majority of the single cells at a given time point were rare and enriched with highly expressed genes. The relative abundance of each allele in a cell was controlled by some regulatory mechanisms given that we observed related single-cell allelic profiles according to genes. Overall, these results have direct implications in cellular phenotypic variability. © 2015 The American Society of Human Genetics.
2015
Authors
Arous, C; Ferreira, PG; Dermitzakis, ET; Halban, PA;
Publication
Journal of Biological Chemistry
Abstract
2015
Authors
Melé, M; Ferreira, PG; Reverter, F; DeLuca, DS; Monlong, J; Sammeth, M; Young, TR; Goldmann, JM; Pervouchine, DD; Sullivan, TJ; Johnson, R; Segrè, AV; Djebali, S; Niarchou, A; Wright, FA; Lappalainen, T; Calvo, M; Getz, G; Dermitzakis, ET; Ardlie, KG; Guigó, R;
Publication
Science
Abstract
Transcriptional regulation and posttranscriptional processing underlie many cellular and organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue Expression (GTEx) project to investigate the patterns of transcriptome variation across individuals and tissues. Tissues exhibit characteristic transcriptional signatures that show stability in postmortem samples. These signatures are dominated by a relatively small number of genes - which is most clearly seen in blood - though few are exclusive to a particular tissue and vary more across tissues than individuals. Genes exhibiting high interindividual expression variation include disease candidates associated with sex, ethnicity, and age. Primary transcription is the major driver of cellular specificity, with splicing playing mostly a complementary role; except for the brain, which exhibits a more divergent splicing program. Variation in splicing, despite its stochasticity, may play in contrast a comparatively greater role in defining individual phenotypes.
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