The Family Ascertainment, Linkage Analysis, and Informatics Core provides a comprehensive framework for clinical and statistical resources necessary to identify genes which predispose to human disease. These functions are highly interdependent and critical to the success of linkage studies. Central to both the family ascertainment and statistical components is the PEDIGENE database.. PEDIGENE is a relational database that integrates family history, clinical, and genotypic marker results together with DNA banking and genomics that integrates family history, clinical, and genotypic marker results together with DNA banking and genomics functions from Core B. This flexible, highly secure genetic database system continues to be instrumental in the rapid and accurate assimilation of and access to all types of genetic data. This core will serve as the umbrella for coordinating and performing all linkage studies in projects 1 and 3, from initial linkage through characterization of heterogeneity through fine mapping, in Mendelial diseases. These diseases include Charcot-Marie- Tooth disease type 2, familial spastic paraparesis, the autosomal dominant limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, and the Lumbee myopathy. The Core also provides consulting support for complex trait analysis such as in project 2, including non-parametric linkage analysis (siblink) and TDT. In addition, this core provides seed support for several projects under development including studies of neural tube defects and Chiari type 1 malformation. Ultimately, these projects will be developed to a point to ensure independent funding, thereby maximizing the impact of the availability of these critical core resources.
Showing the most recent 10 out of 204 publications
