A parametric approach to kinship hypothesis testing using identity-by-descent parameters

作者：Garcia Magarinos Manuel^*; Egeland Thore; Lopez de Ullibarri Ignacio; Hjort Nils L; Salas Antonio

来源：Statistical Applications in Genetics and Molecular Biology, 2015, 14(5): 465-479.

DOI：10.1515/sagmb-2014-0080

• asymptotical distribution
• hypothesis testing
• identity-by-descent (IBD)
• relationship testing
• single nucleotide polymorphisms (SNP)

There is a large number of applications where family relationships need to be determined from DNA data. In forensic science, competing ideas are in general verbally formulated as the two hypotheses of a test. For the most common paternity case, the null hypothesis states that the alleged father is the true father against the alternative hypothesis that the father is an unrelated man. A likelihood ratio is calculated to summarize the evidence. We propose an alternative framework whereby a model and the hypotheses are formulated in terms of parameters representing identity-by-descent probabilities. There are several advantages to this approach. Firstly, the alternative hypothesis can be completely general. Specifically, the alternative does not need to specify an unrelated man. Secondly, the parametric formulation corresponds to the approach used in most other applications of statistical hypothesis testing and so there is a large theory of classical statistics that can be applied. Theoretical properties of the test statistic under the null hypothesis are studied. An extension to trios of individuals has been carried out. The methods are exemplified using simulations and a real dataset of 27 Spanish Romani individuals.

• 出版日期2015-11