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Sampling properties of estimators of nucleotide diversity at discovered SNP sites

Alexander RenwickPenelope BonnenDimitra TrikkaDavid NelsonRanajit ChakrabortyMarek Kimmel — 2003

International Journal of Applied Mathematics and Computer Science

SNP sites are generally discovered by sequencing regions of the human genome in a limited number of individuals. This may leave SNP sites present in the region, but containing rare mutant nucleotides, undetected. Consequently, estimates of nucleotide diversity obtained from assays of detected SNP sites are biased. In this research we present a statistical model of the SNP discovery process, which is used to evaluate the extent of this bias. This model involves the symmetric Beta distribution of...

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