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.
Clayton
David
D
Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge University, Cambridge CB2 0XY, UK. david.clayton@cimr.cam.ac.uk
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