Background

Undergraduate education: Kenyon College, Major in Biology with a Minor in Statistics. I did undergraduate research on mapping genes in Arabidopsis thaliana using linkage analysis.

I worked at GeneDx a clinical genetic diagnostics laboratory in Gaithersburg MD from 2003 to 2009. Projects included robotic automation systems design, programing, and implementation for various laboratory processes. LIMS system development, design and testing management. Micro array test development and design. Next generation based sequencing test and pipeline development and design in collaboration with the Marth Lab.

Current projects

RUFUS

RUFUS is a completely reference free, de novo, variant discovery tool. This method directly compares samples to identify mutation events between the samples without the use of a reference genome or a full de-novo assembly.

RUFUS will be coming soon. Check back here for software releases and publication info. There will also eventually be a github page for the source code.

Publications

Farrell, A., et al. A DOC2 Protein Identified by Mutational Profiling is Essential for Apicomplexan Parasite Exocytosis. Science (2012) In Press.