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Research Priorities

The Duke Center for Statistical Genetics and Genomics (StatGen) has identified the following four research themes which represent areas where critical gaps in knowledge may be bridged through collaboration.  Our working groups are developed around these themes to optimize scientific expansion:

  1. Genome characterization
    1. Identification – Development and implementation of novel variant calling algorithms in response to emerging genomic technologies and underrepresented classes of variation, focusing on characterizing uncertainty and propagating through downstream analyses.
    2. Annotation – Characterization of sequence function and mapping sequences to genes.
    3. Prioritization – Predicting the functional effect of individual mutations and refining methods for identifying intolerant genomic regions.
  2. Genetic architecture of disease – Development and implementation of methods characterizing the extent of genetic control of a disease phenotype as well as identification of specific genetic factors influencing disease risk.
    1. Heritability, aggregation, and segregation
    2. Phenotype/endophenotype definition and development –The identification of unique or unusual clinical patterns that could be used to inform downstream gene mapping experiments may be made possible by emerging clinical databases.
    3. Gene mapping – association studies, linkage studies, joint tests of linkage and association, etc.
  3. Prediction and Genomic Interpretation – Development of models for predicting disease risk based on genomic and other risk factors, as well as the development of framework for attributing likely genetic causes or contributing factors of disease already present in an individual.
  4. Translational studies – Design and analysis of studies designed to evaluate the functional impact of mutations and the effect interventions have on normalizing disease phenotypes within these model systems using multi-electrode array and mouse studies.


Working Groups

The working groups within StatGen help organize multiple research projects that share common areas of focus.  The idea originated from director, Dr. Andrew Allen’s experience working with different researchers.  He noticed that often, individual researchers were working on different aspects of the same problems without taking advantage of the unique opportunities for collaboration between them.

The working groups serve to create links between research groups and facilitate the sharing of expertise and perspective, resulting in a richer research environment and more opportunities for exploring external funding. Usage of the working groups is flexible enough to meet the varying needs of different research groups.  Through the utilization of resources like shared trainees, collaborative meetings, and online tools, StatGen provides researchers with the tools they need to do better science.

StatGen’s current working groups include: