Biography

My principal areas of clinical bioinformatics research of GENOMIC MEDICINE: Aims to collect phenotypic and clinical information on variants across the genome develop a consensus approach to identify clinically relevant genetic variants, and disseminate information about the variants to researchers and clinicians. This resource is essential for advancing the goals of implementing genomics in clinical care and will improve the understanding of phenotypic and functional effects of genetic variants and their clinical value. WES-RARE DISEASE: Whole genome sequencing or whole exome sequencing where only the protein-coding exons within genes, rather than the entire genome, are sequenced, has been used to help doctor’s diagnose-and in some extraordinary cases to identify available treatments-in rare disease cases. PHARMACOGENOMICS: Involves using an individual's genome to determine whether or not a particular therapy, or dose of therapy, will be effective. Currently, more than 100 FDA-approved drugs have pharmacogenomics information in their labels, in diverse fields such as analgesics, antivirals, cardiovascular drugs, and anti-cancer therapeutics. CLINICAL DATASET: The genomics demonstration and incorporate genomic information into the electronic medical record and provide clinical decision support for implementation of appropriate interventions or clinical advice. GENOMIC VARIATION: These include the characterization of genomic variation among individuals in the target populations. The identification of the clinically significant variants in each group, the assessment of the extent to which intervention could change predicted outcome taking into account other changes in environmental exposure and behaviors, and the development of an understanding of the costs of these processes for the society and weighing them against other societal needs. EPIGENETICS: The molecular data we work with are mainly based on high-throughput sequencing and includes (I) genome- and exome-wide DNA sequencing, which allows us to identify small mutations as well as structural variants such as translocations and (II) RNA sequencing to identify changes in gene expression and gene fusions. We analyze epigenetic changes such as aberrant DNA methylation of the tumor using genome-wide sequencing and methylation arrays.