On inferring presence of an individual in a mixture: a Bayesian approach

Biostatistics. 2010 Oct;11(4):661-73. doi: 10.1093/biostatistics/kxq035. Epub 2010 Jun 3.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Bayes Theorem
  • Biostatistics / methods*
  • Chromosomes, Human, Pair 20 / genetics
  • Computer Simulation
  • Forensic Genetics / methods*
  • Gene Frequency / genetics
  • Genetics, Population / methods*
  • Genotype
  • Humans
  • Linkage Disequilibrium / genetics
  • Models, Genetic*
  • Polymorphism, Single Nucleotide / genetics
  • Scotland
  • United Kingdom