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YMrCA: towards the improvement of chrY ancestor time estimation for DNA kinship research

Tijdschriftbijdrage - Tijdschriftartikel

The Y-chromosome can be a valuable paternal kinship indicator in, for instance, family history research and forensic familial searching. To reconstruct the genealogy, the time to the most recent common ancestor (tMRCA) between paternal relatives can be estimated through Y-STR analysis. Two existing models for tMRCA estimation are the stepwise mutation model (SMM), only accepting one-step Y-STR mutations, and the infinite allele model (IAM), assuming a new allele per Y-STR mutation. Until now, all existing online tMRCA calculators have been based on the IAM. In this study, the two different mutation models and all three existing tMRCA calculators were validated through a genetic-genealogy database containing 1,120 judicially related genealogical pairs with known tMRCA (covering 18,109 generations) and with biological kinships confirmed by 46 Y-STRs. Consistent under- and overestimation together with broad confidence intervals were observed, leading to dubious tMRCA estimates. This is mainly because their calculations lack the inclusion of individual Y-STR mutation rates with multi-step mutations, while ignoring possible hidden multiple, back or parallel mutations. To improve tMRCA estimation, we developed a user-friendly calculator, called the ‘YMrCA’, including all previously mentioned Y-STR mutation characteristics. After extensive validation analysis, we observed that the YMrCA calculator demonstrated a promising performance. The YMrCA yields a significantly higher tMRCA estimation success rate (96%; +20%) and a lower tMRCA generation error (7; -3) compared to the IAM and SMM models as well as the available online tMRCA calculators. Therefore, YMrCA offers the next step towards more objective tMRCA estimation for DNA kinship research.
Tijdschrift: Human Mutation
ISSN: 1059-7794
Issue: 10
Volume: 42
Pagina's: 1307 - 1320
Jaar van publicatie:2021
BOF-keylabel:ja
IOF-keylabel:ja
BOF-publication weight:2
CSS-citation score:1
Auteurs:International
Authors from:Government, Higher Education
Toegankelijkheid:Closed