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24/02/2015

Use of massive genome sequencing to identify pathologic mutations

2015_0028_IMATGE

24/02/2015

Review the presentations of the course taught by VHIR and CNAG researchers

How work and how can be applied the massive sequencing techniques into biomedical research? Researchers from Vall d’Hebron Institute of Research (VHIR) and the Centre Nacional d’Anàlisi Genòmica (CNAG) answered this question at the course ‘Identification and analysis of sequence variants in sequencing projects: fundamentals and tools’, hosted at VHIR on February 11 and 18. The latest massive sequencing techniques belong to the field of genomics and are applied to biomedical research and for the diagnosis of patients. These techniques are able to identify the differences in the genome of individuals, and are used with the aim to promote the most accurate diagnosis, choose the best treatment or give genetic counseling on hereditary diseases. About these techniques talked Dr. Xavier de la Cruz, head of the Translational Bioinformatics group at VHIR, and Casandra Riera, researcher of the same group, and doctors Ivo Gut, Sergi Beltran and Sophia Derdak from CNAG. All the presentations of the course are available on "http://www.slideshare.net/VHIR" Slideshare: "http://www.slideshare.net/VHIR/interpretation-of-sequence-variants-in-the-biomedical-environment-what-should-we-take-into-account" Interpretation of sequence variants in the biomedical environment: what should we take into account, by Xavier de la Cruz "http://www.slideshare.net/VHIR/interpretation-of-sequence-variants-in-the-biomedical-environment-what-should-we-take-into-account" "http://www.slideshare.net/VHIR/150218-cnag-vhircasandra" Using and combining the different tools for predicting the pathogenicity of sequence variants, by Casandra Riera "http://www.slideshare.net/VHIR/using-and-combining-the-different-tools-for-predicting-the-pathogenicity-of-sequence-variants" "http://www.slideshare.net/VHIR/ngs-and-the-molecular-basis-of-disease-a-practical-view" NGS and the molecular basis of disease: a practical view, by Ivo Glynne Gut "http://www.slideshare.net/VHIR/ngs-and-the-molecular-basis-of-disease-a-practical-view" "http://www.slideshare.net/VHIR/variant-calling-and-how-to-prioritize-somatic-mutations-and-inheritated-variants-in-ngs-data-an-advanced-overview" Variant calling and how to prioritize somatic mutations and inheritated variants in NGS data: an advanced overview, by Sophia Derdak "http://www.slideshare.net/VHIR/variant-calling-and-how-to-prioritize-somatic-mutations-and-inheritated-variants-in-ngs-data-an-advanced-overview" "http://www.slideshare.net/VHIR/sergi-beltran" Data analysis pipelines for NGS applications, by Sergi Beltran

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