In order to improve the accessibility of genomic and proteomic information to medical researchers, we have developed a procedure to link biological information on proteins involved in diseases to the MeSH and ICD-10 disease terminologies. For this purpose, we took advantage of the manually curated disease annotations in more than 2,000 human protein entries of the UniProt KnowledgeBase. We mapp...

The successful completion of the Human Genome Project (HGP) was an unprecedented scientific advance that has become an invaluable resource in the search for genes that cause monogenic and common (polygenic) diseases. Prior to the HGP, linkage analysis had successfully mapped many disease genes for monogenic disorders; however, the limitations of this approach were particularly evident for ident...

Maps of regional morbidity and mortality rates are useful tools in determining spatial patterns of disease. Combined with socio-demographic census information, they also permit assessment of environmental justice, i.e., whether certain subgroups suuer disproportionately from certain diseases or other adverse eeects of harmful environmental exposures. Bayes and empirical Bayes methods have prove...

LI, LI. Disease Gene Mapping in General Pedigrees (under the direction of Dr. Bruce S. Weir and Dr. Sharon R. Browning) Disease gene mapping is one of the main focuses of genetic epidemiology and statistical genetics. This dissertation explores some methods and algorithms in this area, especially in pedigrees. The first chapter gives an introduction to human genetics and disease gene mapping. E...

BACKGROUND Quantitative susceptibility mapping (QSM) and R2* relaxation rate mapping have demonstrated increased iron deposition in the substantia nigra of patients with idiopathic Parkinson's disease (PD). However, the findings in other subcortical deep gray matter nuclei are converse and the sensitivity of QSM and R2* for morphological changes and their relation to clinical measures of diseas...

OBJECTIVE To assess the role of Intervention Mapping (IM) in designing disease prevention interventions worldwide. METHODS Systematic search and review of the relevant literature-peer-reviewed and grey-was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines. FINDINGS Only five of the twenty two included studies reviewed were RCTs that c...

Disease mapping is an area of statistical research that is rapidly evolving. At the present time, it has become usual that Vital Statistics Agencies produce Atlases to display the mortality risk distribution in a region. Most of these published documents already make use of spatial models that correct the well-known deficiencies of the Standardized Mortality Ratio (SMR). Recently, interest has ...

A unique feature of cardiac magnetic resonance is its ability to characterize myocardium. Proton relaxation times, T1, T2, and T2* are a reflection of the composition of individual tissues, and change in the presence of disease. Research into T1 mapping has largely been focused in the study of cardiomyopathies, but T1 mapping also shows huge potential in the study of ischaemic heart disease. In...

In this chapter, we give a short introduction to the genetics of complex disease with special emphasis on evolutionary models for disease genes and the effect of different models on the genetic architecture, and finally give a survey of the state-of-the-art of genome-wide association studies.

In disease mapping, the aim is to estimate the spatial pattern in disease risk over an extended geographical region, so that areas with elevated risks can be identified. A Bayesian hierarchical approach is typically used to produce such maps, which represents the risk surface with a set of random effects that exhibit a single global level of spatial smoothness. However, in complex urban setting...