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Abstract:
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Identity-by-descent (IBD) mapping is an important tool in the discovery of the locations of genes contributing to complex traits, especially in the presence of rare variants. If individuals are identical-by-descent, they have inherited the genetic material at that locus from a common ancestor, and while IBD status cannot be observed, it can be estimated based on marker data and the relationship between individuals. If the individuals are members of a known pedigree, IBD can be estimated relative to the founders of the pedigree and linkage analysis can be performed even for very large and complex pedigrees. If the individuals are not known to be related but are members of a population, the population kinship can be used to estimate IBD relative to much more distant ancestors. We present a method that uses population-level IBD estimation techniques to estimate IBD among pedigree founders and between individuals in disjoint pedigrees. By incorporating IBD segments between cryptically related individuals and distant relatives we increase the power of a pedigree-based IBD linkage analysis.
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