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Illustration of the idea of a) cMAF and b) cLD.

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posted on 2023-12-18, 18:40 authored by Dinghao Wang, Deshan Perera, Jingni He, Chen Cao, Pathum Kossinna, Qing Li, William Zhang, Xingyi Guo, Alexander Platt, Jingjing Wu, Qingrun Zhang

An example to show the calculation of cLD, inspired by cMAF. a) Out of six haplotypes, there are two [1, 4] who have mutations in region A. Therefore, the cMAF P(A) for region A is 2/6 = 0.33. b) There are three haplotypes [3, 4, 5] who have mutations in region B and the cMAF P(B) for region B is 3/6 = 0.50. If one considers regions A and B together, there is one individual with mutations in both regions: [4]. Thus, the P(AB) is 1/6 = 0.17. Finally, by yielding P(A), P(B) and P(AB) into the standard formula of LD we have cLD = 0.375. (This is only an illustrating example with 6 haplotypes. In practice, the variants contributing to cMAF or cLD are rare ones with MAF < 0.5%.

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