My research is focused on genomics and computing, with emphasis on variant and copy number analysis, gene expression, microbiome and proteomics studies. I am also interested in Big data analytics in medicine and healthcare with real-time data processing, messaging and streaming techniques.
Previously, at Emory Vaccine Center, I worked in Human Immunology Project Consortium projects with emphasis in understanding the effects of adjuvanted seasonal flu vaccination in healthy as well as in HIV-infected individuals. At University of Florida, I applied systems biology approaches to study the effects of recreational marijuana and/or tobacco use in HIV-infected young adults. At University of California San Diego, I worked for LIPID MAPS and UCSD Signaling Gateway consortium projects.
Integrative analysis of multi-omics data for discovery and functional studies of rare human genetic diseases
Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from individuals affected LND, along with controls. These cell lines provided novel insights and applications for modeling LND.
Signatures of somatic mutations from HPV-positive head and neck squamous cell carcinomas (HNSCC)
Human papilloma virus (HPV) causes a subset of HNSCC of the oropharynx. We combined DNA-Seq and RNA-Seq data to identify genetic variants and gene expression signatures respectively from patients with HNSCC including oropharyngeal squamous cell carcinomas (OPSCC).