Lappo Egor, Rosenberg Noah A
Department of Biology, Stanford University, Stanford, CA, USA.
iScience. 2024 Jan 12;27(2):108831. doi: 10.1016/j.isci.2024.108831. eCollection 2024 Feb 16.
An "Arizona search" is an evaluation of the numbers of pairs of profiles in a forensic-genetic database that possess partial or complete genotypic matches; such a search assists in establishing the extent to which a set of loci provides unique identifications. In forensic genetics, however, the potential for performing Arizona searches is constrained by the limited availability of actual forensic profiles for research purposes. Here, we use genotype imputation to circumvent this problem. From a database of genomes, we impute genotypes of forensic short-tandem-repeat (STR) loci from neighboring single-nucleotide polymorphisms (SNPs), searching for partial STR matches using the imputed profiles. We compare the distributions of the numbers of partial matches in imputed and actual profiles, finding close agreement. Despite limited potential for performing Arizona searches with actual forensic STR profiles, the questions that such searches seek to answer can be posed with imputation-based Arizona searches in increasingly large SNP databases.
“Arizona搜索”是对法医基因数据库中具有部分或完全基因型匹配的图谱对数量进行评估；这样的搜索有助于确定一组基因座提供唯一识别的程度。然而，在法医遗传学中，由于用于研究目的的实际法医图谱有限，进行Arizona搜索的可能性受到限制。在此，我们使用基因型填充来规避这一问题。从一个基因组数据库中，我们从相邻的单核苷酸多态性（SNP）推断法医短串联重复序列（STR）基因座的基因型，使用推断出的图谱搜索部分STR匹配。我们比较了推断图谱和实际图谱中部分匹配数量的分布，发现二者非常一致。尽管使用实际法医STR图谱进行Arizona搜索的可能性有限，但此类搜索试图回答的问题可以通过在越来越大的SNP数据库中基于填充的Arizona搜索来提出。
