A user's guide to the Encyclopedia of DNA elements (ENCODE)

The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology and improve health. The ENCODE Consortium is integrating multiple technologies and approaches in a collective effort to discover and define the functional elements encoded in the human genome, including genes, transcripts, and transcriptional regulatory regions, together with their attendant chromatin states and DNA methylation patterns. In the process, standards to ensure high-quality data have been implemented, and novel algorithms have been developed to facilitate analysis. Data and derived results are made available through a freely accessible database. Here we provide an overview of the project and the resources it is generating and illustrate the application of ENCODE data to interpret the human genome

Evaluation of a 7-gene genetic profile for athletic endurance phenotype in ironman championship triathletes

© 2015 Grealy et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Polygenic profiling has been proposed for elite endurance performance, using an additive model determining the proportion of optimal alleles in endurance athletes. To investigate this model's utility for elite triathletes, we genotyped seven polymorphisms previously associated with an endurance polygenic profile (ACE Ins/Del, ACTN3 Arg577Ter, AMPD1 Gln12Ter, CKMM 1170bp/985+185bp, HFEHis63Asp, GDF8 Lys153Arg and PPARGC1A Gly482Ser) in a cohort of 196 elite athletes who participated in the 2008 Kona Ironman championship triathlon. Mean performance time (PT) was not significantly different in individual marker analysis. Age, sex, and continent of origin had a significant influence on PT and were adjusted for. Only the AMPD1 endurance-optimal Gln allele was found to be significantly associated with an improvement in PT (model p = 5.79 × 10- 17 , AMPD1 genotype p = 0.01). Individual genotypes were combined into a total genotype score (TGS);TGS distribution ranged from 28.6 to 92.9, concordant with prior studies in endurance athletes (mean±SD: 60.75±12.95). TGS distribution was shifted toward higher TGS in the top 10% of athletes, though the mean TGS was not significantly different (p = 0.164) and not significantly associated with PT even when adjusted for age, sex, and origin. Receiver operating characteristic curve analysis determined that TGS alone could not significantly predict athlete finishing time with discriminating sensitivity and specificity for three outcomes (less than median PT, less than mean PT, or in the top 10%), though models with the age, sex, continent of origin, and either TGS orAMPD1 genotype could. These results suggest three things: that more sophisticated genetic models may be necessary to accurately predict athlete finishing time in endurance events; that non-genetic factors such as training are hugely influential and should be included in genetic analyses to prevent confounding; and that large collaborations may be necessary to obtain sufficient sample sizes for powerful and complex analyses of endurance performance

Cyber-stalking victimization: what predicts fear among portuguese adolescents?

A large body of research clearly demonstrates that adolescents use technology to a staggering degree and that they are one of the main groups that are vulnerable to online victimization. However, the study of cyber-stalking, which is a form of cyber-harassment victimization, has been limited to the adult population and has resulted in some controversy regarding whether fear is a definitional criterion for this phenomenon. In Portugal, the study of cyber-stalking among adolescents is limited, as it is not yet a target of scientific research, public politics or social attention. The current study assessed the cyber-stalking victimization of 627 Portuguese adolescents (12- to 16-years-old). The prevalence of victimization, the cyber-victim's profile, cyber-stalking dynamics, the cyber-stalker's profile, parental cyber-involvement and adolescents fear reporting were analysed. The majority of the current sample admitted to having been the victim of cyber-stalking at some point in their life, and nearly half of the adolescents reported experiencing fear after the victimization. A logistic regression model was developed to predict fear reporting. Consistent with previous research, the results indicated that fear is strongly associated with female victims and shed light on the self-perception of online risk and a number of parental involvement practices. Being the target of 1) messages of exaggerated affection, 2) persistent cyber-stalking or 3) older cyber-stalkers was also associated with fear. These results underscore the importance of understanding fear as a complex emotion that results from the interaction of different variables. Thus, it is critical to adopt fear as a key criterion of the cyber-stalking definition. Implications for social, educational, political and judicial practices are also discussed.The study was supported by a FCT - Portuguese National Funding Agency for Science, Research and Technology - grant for project No SFRH/BD/78004/2011: "Cyber-stalking Among Adolescents: Behaviours and Attitudes", which was conducted within the PhD program in Applied Psychology.info:eu-repo/semantics/publishedVersio