3 research outputs found

    A crowdsourcing database for the copy-number variation of the Spanish population

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    Background: Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants. Results: Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/. Conclusion: SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database

    El Derecho del Trabajo y de la Seguridad Social en España en 2015. Sección Juvenil de la Asociación Española de Derecho del Trabajo y de la Seguridad Social.

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    Este Informe deja constancia de los cambios normativos más relevantes y de las tendencias judiciales más paradigmáticas del ordenamiento laboral en 2015. En él se observa el imparable dinamismo del Derecho del Trabajo y de la Seguridad Social en España. El documento, consciente de tal mutabilidad, recoge una minuciosa selección de cuestiones esenciales, a juicio de las personas que abordan cada una de las materias, de las que son especialistas; los autores y las autoras, que forman parte de la Sección Juvenil de la Asociación Española de Derecho del Trabajo y de la Seguridad Social, se adscriben a los grupos temáticos por afinidad con sus principales líneas de investigación y su labor docente universitaria. En síntesis, en el Informe “El Derecho del Trabajo y de la Seguridad Social en España en 2015” se puede encontrar información muy útil para los profesionales del iuslaboralismo en materia de derechos fundamentales inespecíficos, contratación laboral y empleo, vicisitudes del contrato de trabajo, derechos colectivos, igualdad y corresponsabilidad, Seguridad Social o prevención de riesgos laborales. This report has as aim leaving a record of the most relevant normative changes and the most paradigmatic judicial trends in Labour Law in 2015. One can easily observe the unstoppable dynamismof Labour and Social Security Law in Spain. The document, conscious of that mutability, collects a thorough selection of key issues, according to the judgement of the authors, all of them specialists and all of them members of the Young Scholars’ Section of the Spanish Association for Labour and Social Security Law. They are part of thematic groups, linked to their main research lines and their teaching task. Summing up, in this report “Labour and Social Security Law in Spain in 2015”, one can easily find useful information for labour lawyers in subjects such as unspecific fundamental rights, work contracts and employment, issues of the labour relationship, collective rights, equality and co-responsibility, Social Security or occupational risk prevention
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