Balding David J, Speed Doug
Melbourne Integrative Genomics, School of Mathematics & Statistics, University of Melbourne, Parkville, Victoria, Australia.
UCL Genetics Institute, University College London, London, UK.
Ann Hum Genet. 2025 Sep;89(5):241-254. doi: 10.1111/ahg.12606. Epub 2025 Jun 27.
We review three areas of human genetics that have been developed in the past few decades, in which statistical innovation has made a crucial contribution with recent important advances and the potential for further rapid progress. The first topic is the development of mathematical models for the genealogy underlying samples of genome-wide genetic data. Coalescent theory emerged in the 1980s, leaped ahead in the past decade and is now burgeoning into new application areas in population, evolutionary and medical genetics. The second is the development of statistical methods for genome-wide association studies which has made great strides over two decades, including exciting recent developments for association testing based on coalescent theory and improved methods for trait prediction. Finally, we review the statistical ideas that helped resolve the controversies surrounding the introduction of forensic DNA profiling in the early 1990s. Big advances in interpretation of the predominant autosomal DNA profiles have set a benchmark for other areas of forensic science, but the statistical assessment of uniparentally inherited profiles (derived from the mitochondrial DNA or the Y chromosome) remains unsatisfactory.
我们回顾了在过去几十年中发展起来的人类遗传学的三个领域，在这些领域中，统计创新为最近的重要进展以及进一步快速发展的潜力做出了至关重要的贡献。第一个主题是为全基因组遗传数据样本背后的谱系建立数学模型。合并理论出现在20世纪80年代，在过去十年中取得了飞跃式发展，现在正迅速扩展到群体遗传学、进化遗传学和医学遗传学的新应用领域。第二个是全基因组关联研究统计方法的发展，在过去二十年中取得了巨大进展，包括基于合并理论的关联测试的最新令人兴奋的进展以及性状预测的改进方法。最后，我们回顾了有助于解决20世纪90年代初围绕法医DNA图谱引入的争议的统计理念。在主要常染色体DNA图谱解释方面的重大进展为法医学的其他领域树立了标杆，但单亲遗传图谱（源自线粒体DNA或Y染色体）的统计评估仍然不尽人意。
