- Genetic epidemiology
- Population genetics / Evolutionary Biology
I am particularly interested in genomic structural variation (e.g., copy number variation) and the effect that this has on health and disease. CNVs are highly prevalent throughout the human genome: as of December 2010 there are over 67,000 annotated CNVs at 16,000 loci overlapping approximately 40 percent of genes. They are causative in many recurrent genomic disorders (e.g. Smith-Magenis Syndrome, Charcot-Marie-Tooth neuropathy) and common complex disorders (e.g. schizophrenia, autism). CNVs are also known to be a modifying factor in a wide spectrum of diseases (e.g. obesity, lung cancer, HIV infection). My goal is to analyze copy number variation for its effects on human health both on an individual- and a population-wide level.
CNV analysis from two datasets using a GWAS approach: I am analyzing SNP array data from African-American and European-American subjects to determine the presence of copy number variation and the effect this has on phenotype, both on an individual level and across the two study populations.
CNV analysis on exome sequence data from NHLBI exome sequencing project: I will analyze exome sequence data for copy number variation, and will test for CNV-trait associations, comparing the feasibility of CNV analysis using data derived from exome sequence information versus the already well-established SNP-array data approach.
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang S-H, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. (2010) Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: Benign or pathological? Human Mutation