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Sökning: WFRF:(Carracedo Angel)

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11.
  • Pau, Ivan, et al. (författare)
  • Home e-health system integration in the Smart Home through a common media server.
  • 2009
  • Ingår i: EMBC: 2009 ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE AND BIOLOGY SOCIETY, VOLS 1-20. - 9781424432967 ; 2009, s. 6171-4
  • Konferensbidrag (refereegranskat)abstract
    • Home e-health systems and services are revealed as one of the most important challenges to promote Quality of Life related to Health in the Information Society. Leading companies have worked on e-health systems although the majority of them are addressed to hospital or primary care settings. The solution detailed in this paper offers a personal health system to be integrated with Smart Home services platform to support home based e-care. Thus, the home e-health system and architecture detailed in this research work is ready to supply a seamless personal care solution both from the biomedical data analysis, service provision, security guarantee and information management s point of view. The solution is ready to be integrated within the Accessible Digital Home, a living lab managed by Universidad Politécnica de Madrid for R&D activities.
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12.
  • Timofeeva, Maria N, et al. (författare)
  • Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
  • 2015
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5
  • Tidskriftsartikel (refereegranskat)abstract
    • Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10(-7)), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10(-7)); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10(-7) and OR = 1.09, P = 7.4 × 10(-8)); rs1129406 (12q13) in ATF1 (OR = 1.11, P = 8.3 × 10(-9)), all reaching exome-wide significance levels. Gene based tests identified associations between CRC and PCDHGA genes (P < 2.90 × 10(-6)). We found an excess of rare, damaging variants in base-excision (P = 2.4 × 10(-4)) and DNA mismatch repair genes (P = 6.1 × 10(-4)) consistent with a recessive mode of inheritance. This study comprehensively explores the contribution of coding sequence variation to CRC risk, identifying associations with coding variation in 4 genes and PCDHG gene cluster and several candidate recessive alleles. However, these findings suggest that recurrent, low-frequency coding variants account for a minority of the unexplained heritability of CRC.
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