Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci.

Summary In familial searching in forensic genetics, a query DNA profile is tested against a database to determine whether it represents a relative of a database entrant. We examine the potential for using linkage disequilibrium to identify pairs of profiles as belonging to relatives when the query and database rely on nonoverlapping genetic markers. Considering data on individuals genotyped with both microsatellites used in forensic applications and genome-wide SNPs, we find that ∼30%–32% of parent-offspring pairs and ∼35%–36% of sib pairs can be identified from the SNPs of one member of the pair and the microsatellites of the other. The method suggests the possibility of performing familial searches of microsatellite databases using query SNP profiles, or vice versa. It also reveals that privacy concerns arising from computations across multiple databases that share no genetic markers in common entail risks, not only for database entrants, but for their close relatives as well. Graphical Abstract Highlights • STR and SNP profiles are tested for relatedness using linkage disequilibrium • Relatedness can often be detected from SNPs of one relative and STRs of another • Forensic profiling can seek relatives in databases with nonoverlapping markers • Genomic privacy of close relatives is affected by cross-database computations Genetic data from databases that use nonoverlapping marker sets, such as forensic genetic databases and biomedical and genealogical databases, can be used to connect close relatives, with implications for forensic genetics and genomic privacy. [ABSTRACT FROM AUTHOR]