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Efficient identification of identical-by-descent status in pedigrees with many untyped individuals

By Xin Li, Xiaolin Yin and Jing Li


Motivation: Inference of identical-by-descent (IBD) probabilities is the key in family-based linkage analysis. Using high-density single nucleotide polymorphism (SNP) markers, one can almost always infer haplotype configurations of each member in a family given all individuals being typed. Consequently, the IBD status can be obtained directly from haplotype configurations. However, in reality, many family members are not typed due to practical reasons. The problem of IBD/haplotype inference is much harder when treating untyped individuals as missing

Topics: Ismb 2010 Conference Proceedings July 11 to July 13, 2010, Boston, Ma, Usa
Publisher: Oxford University Press
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Provided by: PubMed Central

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