Resolving a 150-year-old paternity case in Mormon history using DTC autosomal DNA testing of distant relatives

Abstract

Although autosomal DNA testing has been available for a number of years, its use to reconstruct genetic profiles of people that lived centuries in the past is relatively recent and there are no published cases where it was employed to verify a kinship relation, likely to be an alleged paternity, that occurred one and a half century ago.DNA testing has already been employed to study the ancestry and posterity of Joseph Smith Jr., founder of the Latter-day Saint (Mormon) movement. Thanks to information found on the paternally inherited Y chromosome, a number of alleged paternities have been disproved, but obviously this analysis is not effective for alleged daughters. Likewise, his reconstructed mitogenome sequence, reported here for the first time, provides information about his maternal ancestry, but is useless in any paternity questions due to the strict maternal inheritance. Among all the children attributed to Joseph Smith Jr., Josephine Lyon, born in 1844, is perhaps the most frequently mentioned.In the current study, 56 individuals, mostly direct descendants of Joseph Smith Jr. and Josephine Lyon, had their autosomal DNA tested to verify Josephine's biological paternity. Nearly 600,000 autosomal SNPs from each subject were typed and detailed genealogical data were compiled. The absence of shared DNA between Josephine's grandson and Joseph Smith Jr.'s five great-grandchildren together with various amounts of autosomal DNA shared by the same individual with four other relatives of Windsor Lyon is a clear indication that Josephine was not related to the Smith, but to the Lyon's family. These inferences were also verified using kinship analyses and likelihood ratio calculations.

Investigative genetic genealogy: Current methods, knowledge and practice

“…Finding appropriate likelihood thresholds, with maximization of this cost/benefit trade-off applies to most statistical evaluations in forensic case work. The segment model has been adopted by all the major direct-to-consumer (DTC) genetic testing companies in different versions 10 and implemented in various freely available tools [31,37,[40][41][42][43][44][45]. Variations of the segment model implement a pre-phasing step whereby the paternal/maternal origin of each allele is determined and used to potentially improve the accurate detection of IBD segments [38].…”

“…Further, in a forensic setting, marker density cannot necessarily be ensured, for instance due to low quality DNA samples. 10 account for linkage disequilibrium (LD) when SNP numbers increase. Kling showed that the false positive rate (i.e.…”

“…a simple but wellfounded system for comparing related pairs using this large-scale SNP data. While the use of dense SNP microarray data had already been studied in forensic contexts [7][8][9][10][11], such technology became readily available to the public in 2007 through direct-to-consumer testing companies (the 'DTCs') with the launch of tests from deCODE Genetics and 23andMe, costing nearly $1000 [12]. Early tests were based on the Illumina OmniExpress microarray, but the field is now dominated by the Illumina Infinium Global Screening Array (GSA), which currently has a core set of 654,027 SNPs and the ability to add up to 50,000 custom markers.…”

Getting the conclusive lead with investigative genetic genealogy – A successful case study of a 16 year old double murder in Sweden

“…The vast majority of the top hits could be identified from their aliases and/or email addresses. From these individuals, family pedigrees were created using information from sources such as public address registers, ArkivDigital 6 and Riksarkivets digitala forskarsal. 7…”

“…Investigative genetic genealogy (IGG) or forensic genetic genealogy (FGG) has emerged as a powerful forensic tool to generate crucial leads to identify unknown perpetrators and to identify unknown human remains [1][2][3][4][5][6][7]. IGG includes the use of large genotype data sets, typically including hundreds of thousands of single nucleotide polymorphisms (SNPs), in combination with large public genealogy DNA databases in order to track biological relatives of an unknown donor by matching segments of shared DNA [1,[8][9][10].…”