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Chunk #8 — THEORETICAL DERIVATIONS — LD MODEL

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Disease model distortion in association studies.
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For brevity, we will refer to the haplotype with A = i and B = j as ij. Consider the population distribution of the four possible haplotypes formed by the two SNPs; three parameters are necessary to represent an arbitrary distribution. Together with fA and fB, we use the population correlation coefficient to fully parameterize this distribution. The square of this is a commonly used measure of LD, usually denoted by r2 [e.g. Zondervan and Cardon, 2004].