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Current Research

Genomic Variants and Disease

January 2015 - present

My current research involves studying the functional consequence of noncoding variants in the context of tissue-specific regulatory changes and how these changes manifest in disease. I seek to leverage my findings to provide decision support for both clinicians and geneticists with the goal of improving patient care. (Research Advisor: Dr. Yufeng Shen)

Past Experience

Studying the effect of mRNA methylation on ribosome translation efficiency

September 2014 - January 2015

Using ribosomal profiling and methylation data, I wrote a tool to compare mRNA methylation sites against mRNA sites bound by ribosomes to investigate the effect of methylation on translation efficiency. (Rotation Advisor: Dr. Peter Sims)

Bioinformatics: Competitive Analysis Group

October 2013 - July 2014

I analyzed next generation sequencing data from competing platforms to compare performance metrics (alignment, assembly, variant calling) against those of Illumina's platforms. I also tested and evaluated both in-house and external applications submitted to BaseSpace.

Genomic analysis of variants in Kawasaki Disease patients and families

June 2013 - July 2014

Using whole genome sequencing data of families (trios) affected by Kawasaki Disease, I developed an analysis pipeline to discover risk variants. (Project under supervision of Jihoon Kim and Dr. Jane Burns)

Phenotype Finder IN Data Resources (PFINDR)

August 2011 - June 2013

Using phenotype datasets from dbGaP, I developed a tool called DIVER to extract and format demographic information (later integrated into PhenDisco). I also worked on a system PhenDisco that fits existing data in dbGaP to an information model that allows users to free text query dbGaP for studies of interest. (Project under supervision of Dr. Hyeoneui Kim)

Analysis of unidentified carbohydrate complexes in the PDB

June 2011 - August 2011

As part of a summer REU (NSF), with a team of 4 other students, I searched, categorized, and annotated unidentified carbohydrate complexes in the PDB.