Analytical validation of the IBD segment-based tool KinSNP® for human identification applications
KinSNP® v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9th degree relationships) from five diverse populations from the 1000 Genomes Proj...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-01-01
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| Series: | BioTechniques |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07366205.2025.2454770 |
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| author | Bruce Budowle Jianye Ge Lee Baker Kristen Mittelman David Mittelman |
| author_facet | Bruce Budowle Jianye Ge Lee Baker Kristen Mittelman David Mittelman |
| author_sort | Bruce Budowle |
| collection | DOAJ |
| description | KinSNP® v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9th degree relationships) from five diverse populations from the 1000 Genomes Project. Performance was further tested under conditions of simulated genotyping errors and allele or locus dropout. KinSNP data were benchmarked with IBIS, Ped-sim, and known ranges of centimorgan sharing. The calculated values from KinSNP aligned closely with IBIS and Ped-sim benchmarks, and accuracy was maintained with up to 75% simulated missing data. However, even slight increases in simulated sequence error rates negatively impacted performance. This study supports that KinSNP is a reliable solution for IBD-based analyses in forensic contexts. |
| format | Article |
| id | doaj-art-de1113df46fb419a92dedf059a5a46b3 |
| institution | Kabale University |
| issn | 0736-6205 1940-9818 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | BioTechniques |
| spelling | doaj-art-de1113df46fb419a92dedf059a5a46b32025-01-18T22:41:30ZengTaylor & Francis GroupBioTechniques0736-62051940-98182025-01-0111410.1080/07366205.2025.2454770Analytical validation of the IBD segment-based tool KinSNP® for human identification applicationsBruce Budowle0Jianye Ge1Lee Baker2Kristen Mittelman3David Mittelman4Othram Inc, The Woodlands, TX, USAOthram Inc, The Woodlands, TX, USAOthram Inc, The Woodlands, TX, USAOthram Inc, The Woodlands, TX, USAOthram Inc, The Woodlands, TX, USAKinSNP® v1.0, a software tool for human identification, has been widely used to measure IBD segment sharing between individuals using dense SNP data. Herein, the tool was validated using simulated pedigree data (up to 9th degree relationships) from five diverse populations from the 1000 Genomes Project. Performance was further tested under conditions of simulated genotyping errors and allele or locus dropout. KinSNP data were benchmarked with IBIS, Ped-sim, and known ranges of centimorgan sharing. The calculated values from KinSNP aligned closely with IBIS and Ped-sim benchmarks, and accuracy was maintained with up to 75% simulated missing data. However, even slight increases in simulated sequence error rates negatively impacted performance. This study supports that KinSNP is a reliable solution for IBD-based analyses in forensic contexts.https://www.tandfonline.com/doi/10.1080/07366205.2025.2454770Forensic genetic genealogyIBISkinshipKinSNP®validation |
| spellingShingle | Bruce Budowle Jianye Ge Lee Baker Kristen Mittelman David Mittelman Analytical validation of the IBD segment-based tool KinSNP® for human identification applications BioTechniques Forensic genetic genealogy IBIS kinship KinSNP® validation |
| title | Analytical validation of the IBD segment-based tool KinSNP® for human identification applications |
| title_full | Analytical validation of the IBD segment-based tool KinSNP® for human identification applications |
| title_fullStr | Analytical validation of the IBD segment-based tool KinSNP® for human identification applications |
| title_full_unstemmed | Analytical validation of the IBD segment-based tool KinSNP® for human identification applications |
| title_short | Analytical validation of the IBD segment-based tool KinSNP® for human identification applications |
| title_sort | analytical validation of the ibd segment based tool kinsnp r for human identification applications |
| topic | Forensic genetic genealogy IBIS kinship KinSNP® validation |
| url | https://www.tandfonline.com/doi/10.1080/07366205.2025.2454770 |
| work_keys_str_mv | AT brucebudowle analyticalvalidationoftheibdsegmentbasedtoolkinsnpforhumanidentificationapplications AT jianyege analyticalvalidationoftheibdsegmentbasedtoolkinsnpforhumanidentificationapplications AT leebaker analyticalvalidationoftheibdsegmentbasedtoolkinsnpforhumanidentificationapplications AT kristenmittelman analyticalvalidationoftheibdsegmentbasedtoolkinsnpforhumanidentificationapplications AT davidmittelman analyticalvalidationoftheibdsegmentbasedtoolkinsnpforhumanidentificationapplications |