I work in Computational Genomics. Accordingly, my time is split between developing novel computational algorithms, and applying these and existing methods to genomic datasets.

On the development side, I have designed a new tool Phen-Gen for the analysis of rare disorders. Patient's symptoms provide an invaluable unique insight to what genes may be playing a role. Phen-Gen combines these disease symptoms with our current knowledge of human disorders and functional interplay of genes. This information is combined with the patient's sequencing data to implicate the gene(s) involved. Simulation show significant advantage over existing state of the art methods. Phen-Gen is available both as online tool as well as downloadable executable (http://phen-gen.org/).

On the application side, I am currently analyzing sequencing data from patient's suffering from a wide range of disorders including

A point of emphasis is that each of these projects is in collaboration with clinicians who help interpret the patient's condition and evaluate the significance of the results I generate. If you are working with patients with rare disorders, please drop me an email. I am actively looking for collaborations.

In the past I have worked extensively in population genomics and data mining. Please click on the links in the side bar for details of these projects.

The image (courtsey Milwaukee Wisconsin Journal Sentinel) shows Nick a patient whose condition was diagnosed via sequencing, and treated; which is the holy grail of any such analysis.