On inferring presence of an individual in a mixture: a Bayesian approach.
Homer and others (2008. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genetics 4, e1000167) recently showed that, given allele frequency data for a large number of single nucleotide polymorphisms in a sample together with corresponding population "reference" frequencies, by typing an individual's DNA sample at the same set of loci it can be inferred whether or not the individual was a member of the sample. This observation has been responsible for precautionary removal of large amounts of summary data from public access. This and further work on the problem has followed a frequentist approach. This paper sets out a Bayesian analysis of this problem which clarifies the role of the reference frequencies and allows incorporation of prior probabilities of the individual's membership in the sample.
Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge University, Cambridge CB2 0XY, UK. david.clayton@cimr.cam.ac.uk
David
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Clayton
D000465:Algorithms; D001499:Bayes Theorem; D056808:Biostatistics / Q000379:methods*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D003198:Computer Simulation; D053803:Forensic Genetics / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population / Q000379:methods*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012606:Scotland; D006113:United Kingdom