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Current Research

Mosaicism in Congenital Heart Disease

May 2016 - present

My current research involves studying somatic mosaicism in a cohort of congenital heart disease patients. My aims include (1) developing a method to detect mosaic SNVs using exome-sequenced whole blood from trios of affected probands and unaffected parents, (2) studying the biological properties of mosaicism in CHD, and (3) studying transmission of mosaicism from parents to children. (Research Advisors: Dr. Yufeng Shen, Dr. Wendy Chung, Dr. Chunhua Weng)

Past Experience

Noncoding genomic Variants and Disease

December 2015 - May 2016

We investigated the functional consequence of noncoding variants in the context of tissue-specific regulatory changes and how these changes manifest in disease. We sought to leverage my findings to provide decision support for both clinicians and geneticists with the goal of improving patient care. Currently still in development (Research Advisor: Dr. Yufeng Shen)

Predicting NDD in CHD patients

January 2015 - November 2015

Using whole exome sequencing data from a congenital heart disease cohort, I developed a small method to predict risk of acquiring neurodevelopmental disorders among patients with existing CHD. (Part of a joint project with Dr. Yufeng Shen, Dr. Wendy Chung, and Dr. Chunhua Weng)

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 QC data from competing platforms to compare performance metrics (alignment, assembly, variant calling) against those of Illumina's platforms. I also reviewed 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.