Seqüenciació de nova generació i salut en el segle XXI Authors Francisco Vidal Abstract In the first decade of the 21st century the emergence of massive Next Generation Sequencing (NGS) platforms has produced a revolution in DNA sequencing. This technology allows parallel sequencing of millions of DNA molecules at a much lower price than traditional sequencing and it is rapidly moving from the field of basic research to routinely use in clinical practice. Its tremendous potential in several medical specialties will affect virtually all aspects of clinical care, as it will routinely perform diagnostic tests so far inconceivable. In the next ten years probably new NGS platforms for clinical use will appear more versatile, accurate, affordable and even portable that will enable sequencing the whole genome as a universal method of genetic diagnosis. This issue, together with the improved knowledge to predict how genetic variation affects the disease susceptibility, the evolution of illness or the response to medical treatment, will certainly have a transformative effect on the usage and significance of genetic information in the clinical routine of the 21st century. Downloads Download data is not yet available. Downloads Text complet (Català) Published 2014-02-26 Issue 64, 2013 : Les malalties del segle XXI / Jordi Barquinero i Jaume Reventós, editors Section Articles License The intellectual property of the articles belongs to the respective authors. At the time of submitting the articles to Treballs de la Societat Catalana de Biologia, authors accept the following terms: — Authors assign to the SCB (a subsidiary of the Institut d’Estudis Catalans) the rights of reproduction, public communication (including communication through social networks) and distribution of the articles submitted for publication to Treballs de la Societat Catalana de Biologia, in any form and medium, including digital platforms. The Publications Committee reserves the right to accept or refuse submitted articles and the right to make any editorial changes it deems appropriate. If the suggested changes are accepted by authors, they should re-submit the article with such changes. — Authors answer to the SCB for the authorship and originality of submitted articles. In other words, authors assure that submitted articles do not contain fragments of works by other authors or fragments of their own previously published works; that the content of articles is original, and that the copyright of third parties is not infringed upon. Authors accept this responsibility and undertake to hold harmless the SCB for any loss or damage resulting from non-compliance with this obligation. Furthermore, they should include a statement in articles submitted to the journal regarding their responsibility for the content of the articles. — Authors are responsible for obtaining permission for the reproduction of all graphic material included in articles, and they should moreover ensure that images, videos, etc., have been created with the consent of the individuals appearing in them, and that material belonging to third parties is clearly identified and acknowledged as such within the text. Likewise, authors should provide the respective consents and authorisations to the SCB when submitting articles. — The SCB is exempt from any liability arising from the possible infringement of intellectual property rights by authors. In all cases, it undertakes to publish corrections, clarifications, retractions and apologies, if necessary. — Unless otherwise stated in the text or in the graphic material, the contents published in the journal are subject to an Attribution - NonCommercial - NoDerivs 3.0 Spain (by-nc-nd) license from Creative Commons, the full text of which may be consulted at https://creativecommons.org/licenses/by-nc-nd/3.0/es/deed.en. Therefore, the general public is authorised to reproduce, distribute and communicate articles as long as their authorship and publishing entity are acknowledged, and no commercial use is made of them nor derivative work produced from them. — The journal is not responsible for the ideas and opinions expressed by the authors of published articles.
