Our working groups are developed around these themes to optimize scientific expansion:
- 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.
- Annotation – Characterization of sequence function and mapping sequences to genes.
- Prioritization – Predicting the functional effect of individual mutations and refining methods for identifying intolerant genomic regions.
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.
- Heritability, aggregation, and segregation
- 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.
- Gene mapping – association studies, linkage studies, joint tests of linkage and association, etc.
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.
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.