Biostatistics Branch Seminar Series
Association Mapping of Rare Variants in Samples with Related Individuals
Mary Sara McPeek, PhD
Departments of Statistics and Human Genetics
University of Chicago
One fundamental problem of interest is to identify genetic variants that contribute to observed variation in human complex traits. With the increasing availability of high-throughput sequencing data, there is the possibility of identifying rare variants that influence a trait, but there may be low power to detect association with any individual rare variant. By combining information across a group of rare variants in a gene or pathway, it is possible to increase power. Many genetic studies contain data on related individuals, and such studies can be particularly helpful for identifying and validating rare variants. We describe statistical methods for mapping rare variants in samples with completely general combinations of families and unrelated individuals, including large complex pedigrees.