liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Comparative Study of Statistical Approaches and SNP Panels to Infer Distant Relationships in Forensic Genetics
Linköping University, Department of Biomedical and Clinical Sciences, Division of Molecular Medicine and Virology. Linköping University, Faculty of Medicine and Health Sciences. Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, SE-58758 Linköping, Sweden.
Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, SE-58758 Linköping, Sweden; Oslo Univ Hosp, Norway; Norwegian Univ Life Sci, Norway.
2025 (English)In: Genes, E-ISSN 2073-4425, Vol. 16, no 2, article id 114Article in journal (Refereed) Published
Abstract [en]

Background/Objectives: Inferring genetic relationships based on genetic data has gained an increasing focus in the last years, in particular explained by the rise of forensic investigative genetic genealogy (FIGG) but also the introduction of expanded SNP panels in forensic genetics. A plethora of statistical methods are used throughout publications; in direct-to-consumer (DTC) testing, the shared segment approach is used, in screenings of relationships in medical genetic research, for instance, methods-of-moment estimators, e.g., estimation of the kinship coefficient, are used, and in forensic genetics, the likelihood and the likelihood ratio are commonly used to evaluate the genetic data under competing hypotheses. This current study aims to compare and contrast examples of the aforementioned statistical methods to infer relationships from genetic data. Methods/Results: This study includes some historical and some recently published panels of SNP markers to illustrate the strength and caveats of the statistical methods on different marker sets and a selection of pre-defined pairwise relationships, 1st through 7th degree. Extensive simulations are performed and subsequently subsetted based on the marker panels alluded to above. As has been shown in previous research, the likelihood ratio is most powerful, i.e., high correct classifications, when SNP data are sparse, say below 20,000 markers, whereas the windowed kinships and segment approaches are equally powerful when very dense SNP data are available, say >20,000 markers. In between lay approaches using method-of-moments estimators which perform well when the degree of relationship is below four but less so beyond, say, 4th degree relationships. The likelihood ratio is the only method that is easily adapted for non-pairwise tests and therefore has an additional depth not addressed in the current study. We furthermore perform a study of genotyping error rates and their impact on the different statistical methods employed to infer relationships, where the results show that error rates below 1% seem to have low impact across all methods, in particular for errors yielding false heterozygote genotypes.

Place, publisher, year, edition, pages
MDPI , 2025. Vol. 16, no 2, article id 114
Keywords [en]
investigative genetic genealogy; SNP; forensic statistics; classification; identity by descent; FORCE; Kintelligence; segment; LR; KING; kinship coefficient
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:liu:diva-212393DOI: 10.3390/genes16020114ISI: 001430573600001PubMedID: 40004443Scopus ID: 2-s2.0-85218465456OAI: oai:DiVA.org:liu-212393DiVA, id: diva2:1945817
Available from: 2025-03-19 Created: 2025-03-19 Last updated: 2025-03-19

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Search in DiVA

By author/editor
Tillmar, Andreas
By organisation
Division of Molecular Medicine and VirologyFaculty of Medicine and Health Sciences
In the same journal
Genes
Endocrinology and Diabetes

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 59 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf