Depts of Ophthalmology and Visual Sciences, and Biomedical Engineering
My research encompasses three primary interests: maximizing the information obtained from next-generation sequencing; computational approaches to identify and define phenotypes; and integrating multi-dimensional data to extract the maximum amount of information from existing datasets. These research foci then extend from the analysis of exome data with explicit search appropriate for integration into a clinical workflow, and identifying novel modes of mutation in next-generation sequencing data, to computational analysis of large (10’s of TB) image-based datasets to discover novel endophenotypes. One exemplar of the latter research is my current research using stereo optic disc photos from the Ocular Hypertension Treatment Study to identify structural components of the optic nerve head which have genetic, diagnostic, or prognostic value.
Additional examples of current research in these areas include:
(1) identification of genetic factors determining central corneal thickness,
(2) identifying locations of genome integration in both gene-therapy and functional genomics studies,
(3) identification of eye-specific and/or eye-tissue specific transcripts and alternative spliced variants (e.g. MAK),
(4) development of a system (Iowa Record Viewer) to integrate patient records from multiple sources to accelerate the review of patient data for improved clinical care;
(5) development of mobile applications to assess visual function.