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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: The phylogeny of 48 alleles, experimentally verified at 21 kb, and its application to clinical allele detection

Fig. 2

Algorithm to analyze genotypes and determine alleles using phylogeny data. Patient or blood donor genotype information for a particular gene is phased into alleles or haplotypes using statistical algorithms for clinical decisions. We propose a novel approach where the confidence for the inferred allele is based on verified, experimentally confirmed alleles and predicted alleles (see Fig. 1). The posterior probability of the predicted alleles is determined by a Bayesian phylogenetic analysis. Whenever a new allele is observed and experimentally confirmed, the phylogenetic analysis is in turn used to predict an updated set of alleles and their posterior probabilities. While this loop process continues, previously unobserved alleles will be encountered less frequently, as the set of confirmed allele increases

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