New Statistical Methods for Family-Based Sequencing Studies (18w5154)


(Université Laval)

(University of Ottawa)

(Simon Fraser University)

(Johns Hopkins Bloomberg School of Public Health)


The advent of high-throughput DNA sequencing has opened the possibility of detecting rare genetic mutations that may be involved in complex human diseases. Family samples are better suited to establish involvement of rare mutations in complex traits than samples of unrelated subjects because in a family, multiple affected members may carry the same rare mutation, from the basic principles of inheritance from parents to children. A common theme to the various areas covered in the workshop is the need to account for various forms of dependence structures in familial DNA sequence data. One source of dependence is the relationships among family members, either known or unknown to the investigators. Another is the association among mutations located at nearby genomic regions, which is detectable through familial and population patterns in the DNA-sequence. Yet another is the dependence among multiple traits. This workshop will bring together statisticians and genetic epidemiologists to better integrate and model the various forms of dependence in statistical inference approaches more powerful and valid than the few statistical methods currently applicable to these data.

The Banff International Research Station for Mathematical Innovation and Discovery (BIRS) is a collaborative Canada-US-Mexico venture that provides an environment for creative interaction as well as the exchange of ideas, knowledge, and methods within the Mathematical Sciences, with related disciplines and with industry. The research station is located at The Banff Centre in Alberta and is supported by Canada's Natural Science and Engineering Research Council (NSERC), the U.S. National Science Foundation (NSF), Alberta's Advanced Education and Technology, and Mexico's Consejo Nacional de Ciencia y Tecnología (CONACYT).