Rare DNA Variants and Human Complex Traits: Improving Analyses of Family Studies by Better Modeling the Dependence Structures

Why Study Genetic Mutations in Families?

The advent of high-throughput DNA sequencing has opened the possibility of detecting rare genetic mutations that may be involved in complex diseases. 

Family samples are better suited to establish the involvement of rare mutations in complex traits than samples of unrelated subjects. This is because in a family, due to the basic principles of inheritance, multiple affected members may carry the same rare mutation.

Areas of Exploration

Dependence Structures

Includes investigating the various forms of dependence structures in familial DNA sequence data. 

Sources of dependence can include:

• the relationships among family members, either known or unknown to the investigators;
• the association among mutations located at nearby genomic regions, detectable through DNA-sequence familial and population patterns;
• dependence among multiple traits. 

Solving Global Challenges

Research Team’s Goals

To bring together statisticians, genetic epidemiologists and complex trait experts to better integrate and model the various forms of dependence. 

To develop statistical inference approaches that are more general and adapted  (with gains in power and validity) than the few methods currently applicable.