Exploració per tema "Genètica mèdica"

Ara es mostren els items 1-6 de 6

    • A limited set of transcriptional programs define major cell types 

      Breschi, Alessandra; Muñoz Aguirre, Manuel; Wucher, Valentin; Guigo Serra, Roderic (2020-03-11)
      Article
      Accés obert
      We have produced RNA sequencing data for a number of primary cells from different locations in the human body. The clustering of these primary cells reveals that most cells in the human body share a few broad transcriptional ...

    • A new gene-based association test for genome-wide association studies 

      Buil, Alfonso; Martínez-Pérez, Angel; Perera Lluna, Alexandre; Rib, Leonor; Caminal Magrans, Pere; Soria, José Manuel (2009-12-15)
      Article
      Accés obert
      Genome-wide association studies are widely used today to discover genetic factors that modify the risk of complex diseases. Usually, these methods work in a SNP-by-SNP fashion. We present a gene-based test that can be ...

    • Enabling genomics pipelines in commodity personal computers with flash storage 

      Cadenelli, Nicola; Jun, Sang-Woo; Polo Bardés, Jorda; Wright, Andrew J.; Carrera Pérez, David; Mithal, Arvind (Frontiers Media SA, 2021-04)
      Article
      Accés obert
      Analysis of a patient’s genomics data is the first step toward precision medicine. Such analyses are performed on expensive enterprise-class server machines because input data sets are large, and the intermediate data ...

    • Genética molecular y mendeliana en retinosis pigmentaria 

      Siles Jiménez, Lucia (Universitat Politècnica de Catalunya, 2013-06-26)
      Treball Final de Grau
      Accés obert

    • Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases 

      González, Juan R.; Ruiz Arenas, Carlos; Cáceres, Alejandro; Morán, Ignasi; López Sánchez, Marcos; Alonso, Lorena; Tolosona, Ignacio; Guindo Martínez, Marta; Mercader, Josep M.; Esko, Tonu; Torrents, David; González, Josefa; Pérez Jurado, Luis A. (Elsevier, 2020)
      Article de premsa
      Accés obert
      The burden of several common diseases including obesity, diabetes, hypertension, asthma, and depression is increasing in most world populations. However, the mechanisms underlying the numerous epidemiological and genetic ...

    • Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study 

      Marateb, Hamid Reza; Mohebian, Mohammad Reza; Javanmard, Shaghayegh Haghjooy; Mañanas Villanueva, Miguel Ángel (Elsevier, 2018-01-01)
      Article
      Accés obert
      Dyslipidemia, the disorder of lipoprotein metabolism resulting in high lipid profile, is an important modifiable risk factor for coronary heart diseases. It is associated with more than four million worldwide deaths per ...