Kruijver Maarten
Institute of Environmental Science and Research, Auckland 1142, New Zealand.
Genes (Basel). 2025 Apr 26;16(5):492. doi: 10.3390/genes16050492.
Dense genetic marker panels are increasingly used in kinship analysis for the identification of distant relatives. As more markers are available, it is possible to pinpoint IBD segments more precisely and more reliably, ultimately approaching close to continuously observed IBD. This study investigates the evidential value obtained for discrimination between common pedigree relationships if IBD is observed continuously across the autosomal genome without error. In the continuous case, the evidential value is limited only by the pedigree relationship and the recombination rates. We conducted simulations to generate IBD segments across the autosomal genome for individuals with defined pedigree relationships. The evidential value for relationship discrimination was then calculated exactly from the underlying model, assuming no genotyping error and full genome coverage. The simulations show that the ability to distinguish pedigree relationships quickly diminishes as relationships become more distant. First cousins can be distinguished from second cousins with 99.9% accuracy which drops to 94% when distinguishing second and third cousins. Relationships with the same expected degree of relatedness can be discriminated using continuously observed IBD, although the effectiveness decreases with more distant relationships. Continuous IBD observation establishes a theoretical upper bound on the power to distinguish relationships if a large but finite number of markers is used. The findings provide a benchmark for evaluating kinship analyses based on finite genetic marker panels.
密集的遗传标记面板越来越多地用于亲缘关系分析,以识别远亲。随着可用标记的增加,更精确、更可靠地确定同源片段(IBD)成为可能,最终接近连续观察到的IBD。本研究调查了在常染色体基因组上无误差地连续观察到IBD时,对于区分常见谱系关系所获得的证据价值。在连续观察的情况下,证据价值仅受谱系关系和重组率的限制。我们进行了模拟,为具有确定谱系关系的个体在常染色体基因组上生成IBD片段。然后,假设无基因分型错误且全基因组覆盖,从基础模型精确计算关系判别证据价值。模拟结果表明,随着关系变得更远,区分谱系关系的能力迅速下降。一级表亲与二级表亲的区分准确率可达99.9%,而区分二级表亲和三级表亲时准确率降至94%。具有相同预期亲缘程度的关系可以通过连续观察到的IBD进行区分,尽管随着关系更远,有效性会降低。如果使用大量但有限数量的标记,连续IBD观察为区分关系的能力建立了理论上限。这些发现为评估基于有限遗传标记面板的亲缘关系分析提供了一个基准。