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Necessary and sufficient conditions for identifiability in the admixture model

Published 11 Feb 2022 in math.ST and stat.TH | (2202.05540v2)

Abstract: We consider M SNP data from N individuals who are an admixture of K unknown ancient populations. Let Πsi\Pi_{si} be the frequency of the reference allele of individual i at SNP s. So the number of reference alleles at SNP s for a diploid individual is binomially distributed with parameters 2 and Πsi\Pi_{si}. We suppose Πsi=∑k=1<sup>KFskQki\Pi_{si}=\sum_{k=1}<sup>KF_{sk}Q_{ki}, where FskF_{sk} is the allele frequency of SNP s in population k and QkiQ_{ki} is the proportion of population k in the ancestry of individual i. I am interested in the identifiability of F and Q, up to a relabelling of the ancient populations. Under what conditions, when Π=F<sup>1Q<sup>1=F<sup>2Q<sup>2\Pi =F<sup>1Q<sup>1=F<sup>2Q<sup>2 are F<sup>1F<sup>1 and F<sup>2F<sup>2 and Q<sup>1Q<sup>1 and Q<sup>2Q<sup>2 equal? I show that the anchor condition (Cabreros and Storey, 2019) on one matrix together with an independence condition on the other matrix is sufficient for identifiability. I will argue that the proof of the necessary condition in Cabreros and Storey, 2019 is incorrect, and I will provide a correct proof, which in addition does not require knowledge of the number of ancestral populations. I will also provide abstract necessary and sufficient conditions for identifiability. I will show that one cannot deviate substantially from the anchor condition without losing identifiability. Finally, I show necessary and sufficient conditions for identifiability for the non-admixed case.

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