Generalisation of genomic findings and applications of polygenic risk scores

Polygenic Risk Scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) capture genetic contributions of a multitude of markers that characterise complex traits. Although their likely application to precision medicine remains to be established, promising advances have included their ability to stratify high risk individuals and targeted screening interventions. Current PRS have been mostly optimised for individuals of Northern European ancestries. If PRS are to become widespread as a tool for healthcare applications, more diverse populations and greater capacity for derived interventions need to be accomplished. In this editorial we aim to attract submissions from the research community that highlight current challenges in development of PRS applications at scale. We also welcome manuscripts that delve into the ethical, social and legal implications that the implementation of PRS may generate

Creencias de los estudiantes en torno a los Espacios Virtuales de Aprendizaje en el desarrollo de la competencia comunicativa oral. Un estudio de caso

Oral communicative competence is traditionally neglected in the development of competence of students in compulsory education. In a highly demanding social and professional context, we must contribute to communication skills in general and to oral skills in particular. Together with this, given the digital and changing context in which we find ourselves, we need to know and master new means of production and reception of messages mediated by technology. Virtual Learning Environments open up an updated field of work that allows for feedback and the extension of the spatial-temporal limits of the classroom for the development of orality

Implementation of individualised polygenic risk score analysis: a test case of a family of four

Background Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applying PRS to keep their populations healthy, little work has been carried out demonstrating their implementation at an individual level. Case presentation We performed a systematic curation of PRS sources from established data repositories, selecting 15 phenotypes, comprising an excess of 37 million SNPs related to cancer, cardiovascular, metabolic and autoimmune diseases. We tested selected phenotypes using whole genome sequencing data for a family of four related individuals. Individual risk scores were given percentile values based upon reference distributions among 1000 Genomes Iberians, Europeans, or all samples. Over 96 billion allele effects were calculated in order to obtain the PRS for each of the individuals analysed here. Conclusions Our results highlight the need for further standardisation in the way PRS are developed and shared, the importance of individual risk assessment rather than the assumption of inherited averages, and the challenges currently posed when translating PRS into risk metrics

Social and cultural approach to the phenomenon of suicide. Ethnic American Indian communities

El suicidio, como fenómeno social y cultural, es cada vez más frecuente en la sociedad occidental y se hace patente en los pueblos amerindios convirtiéndose en un verdadero problema en ciertas etnias de la región. En este artículo vamos a realizar una revisión aproximada de los diferentes aspectos que presenta el fenómeno suicida; empezamos realizando un análisis conceptual, para ello, en primer lugar, intentamos definir con la mayor precisión posible el término suicidio, posteriormente se analiza la perspectiva histórica en relación a dicho fenómeno social. Ya realizada la visión general sobre ciertos aspectos del fenómeno suicida pasamos a describir el estado actual de la cuestión dentro de los pueblos amerindios, analizando una muestra de pueblos indígenas de dicha región que presentan o han presentado problemas concretos relacionados con el suicidio.Suicide as a social and cultural phenomenon, is becoming steadily more frequent in Western society and among the American Indian people it is becoming in a serious problem in some regional ethnic groups. In this study, we roughly review the different aspects presented by the phenomenon of suicide; we start by carrying out a conceptual analysis, for which we firstly seek to define the term suicide with the greatest possible accuracy. Later, we analyse the historical perspective in relation to that social phenomenon. After examining the general view on some aspects related to suicide, we describe the current state of the issue among the American Indian people, analysing a sample of these people from the region that presents o has presented specific problems related to suicide.Grupo de Investigación Antropología y Filosofía (SEJ-126). Universidad de Granad

La convivencia en un centro educativo: claves organizativas para su potenciación

The article consists of two different parts. The first part is a theoretical analysis of violence prevention strategies, primary, secondary and tertiary levels aimed at improving coexistence. And, in the second part, the analysis of practice in the center during the academic years from 2004/2005 to 2008/2009 is integrated. Finally results are presented.El artículo se compone de dos partes diferenciadas. En la primera parte se hace un análisis teórico de las estrategias de prevención de violencia escolar, primaria, secundaria y terciaria cuyo objetivo es la mejora de la convivencia. Y en la segunda parte se integra en dicho análisis la práctica realizada en el centro durante los cursos académicos de 2004/2005 hasta 2008/2009. Finalmente se presentan resultados

Solidarity attitude and practices in Andalusian Youth

Esta investigación versa sobre la construcción social de la juventud andaluza en torno a las prácticas solidarias desde una perspectiva integradora de actitud y práctica. Por ello el objetivo principal de este trabajo se centra en describir la actitud y las prácticas solidarias de la población juvenil considerando a la juventud como una construcción social. Para conseguir este objetivo hemos desarrollado una metodología cualitativa utilizando entrevistas personales y grupos de discusión. Además, hemos llevado a cabo una triangulación metodológica realizando un análisis comparativo de los datos obtenidos con los datos aportados por las fuentes secundarias. Como conclusión principal resaltamos la influencia que presenta la construcción negativa de la juventud en el momento de pensar y de realizar prácticas solidarias.This research deals with the social construction of the Andalusian youth concerning the solidarity in practice from an integrative perspective of both attitude and practice. Thus the main aim of this research is focused on the description of the solidarity attitude and solidarity in practice of youngsters, who are considered to be a social construction. In order to achieve this aim, a qualitative methodology using interviews and discussion groups has been carried out. Furthermore a comparative analysis between the data obtained and the data from secondary sources was done via a methodological triangulation. As the main conclusion we stand out the influence that negative construction presents of young people in the moment of thinking and making solidary practice

Procesos de incorporación sociocultural de la población inmigrante: asimilación y multiculturalidad

In this essay the different approaches and aspects regarding the incorporation of immigrants are highlighted. Specifically, the socio-political and cultural concepts and ideas are analyzed from which terms such as multiculturalism, assimilation, pluralism, integration or acculturation derive. For this, a critical analysis of different authors is carried out, talking between the different terms and observing the consequences that the different perspectives have when studying the incorporation of immigrants from a continuum that goes from total and forced assimilation to multiculturalism / interculturalism. It is therefore a question of unraveling the complexity of the sociocultural policies that are produced in host societies regarding the assimilation / integration of immigrants and the multiple relationships that can occur due to the encounter of different cultures. For this analysis, in the first place, we take into account conceptualization, that is, what we understand by certain terms such as assimilation, pluralism, integration or multiculturalism. Once the concepts have been clarified, we asked ourselves about the return of certain assimilationist policies that seemed to have disappeared, but which may have returned in more complex and subtle ways. As a result of this new assimilation, we wonder about the heterogeneity of these processes in the different immigrant groups, to end up questioning the management of cultural diversity in its different grades, from assimilation to multiculturalism / interculturalism.En este ensayo se pone de relieve los diferentes enfoques y vertientes respecto a la incorporación de las personas inmigrantes. Concretamente, se analizan los conceptos y las ideas sociopolíticas y culturales en las que derivan términos como multiculturalidad, asimilación, pluralismo, integración o aculturación. Para ello, se realiza un análisis crítico de diferentes autores/as conversando entre los distintos términos y observando las consecuencias que tienen las diferentes perspectivas a la hora de estudiar la incorporación de las personas inmigrantes desde un continuum que va desde la asimilación total y forzada hasta el multiculturalismo/interculturalismo. Se trata pues de desentrañar la complejidad de las políticas socioculturales que se producen en las sociedades de acogida respecto a la asimilación/integración de las personas inmigrantes y de las múltiples relaciones que se pueden producir debido al encuentro de diferentes culturas. Para dicho análisis, en primer lugar, tenemos en cuenta la conceptualización, es decir qué entendemos por ciertos términos como asimilación, pluralismo, integración o multiculturalismo. Una vez aclarados los conceptos, nos interrogamos sobre la vuelta de ciertas políticas asimilacionistas que parecían haber desaparecido, pero que pueden haber regresado mediante formas más complejas y sutiles. A raíz de esta nueva asimilación, nos preguntamos sobre la heterogeneidad de dichos procesos en los diferentes grupos de inmigrantes para terminar cuestionándonos la gestión de la diversidad cultural en sus diferentes graduaciones, desde la asimilación hasta el multiculturalismo/interculturalismo

Crowdsourcing the corpasome

The suffix -ome conveys “comprehensiveness” in some way. The idea of the Corpasome started half-jokingly, acknowledging the efforts to sequence five members of my family. After the unexpected response from many scientists from around the world, it has become clear how useful this approach could be for understanding the genomic information contained in our personal genomics tests