Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line. With the advent of high-throughput sequencing, genome-scale data have revealed statistical properties of mutagenesis in humans. These properties include variation of the mutation rate and spectrum along the genome at different scales in relation to epigenomic features and dependency on parental age. Moreover, mutations originated in mothers are less frequent than mutations originated in fathers and have a distinct genomic distribution. Statistical analyses that interpret these patterns in the context of known biochemistry can provide mechanistic models of mutagenesis in humans.

尽管对 DNA 修复和复制在诱变中的作用进行了多年的积极研究，但令人惊讶的是，人们对种系中自发人类突变的起源知之甚少。随着高通量测序的出现，基因组规模的数据揭示了人类诱变的统计特性。这些特性包括与表观基因组特征相关的不同尺度的基因组突变率和谱的变化以及对父母年龄的依赖性。此外，起源于母亲的突变频率低于起源于父亲的突变，并且具有明显的基因组分布。在已知生物化学的背景下解释这些模式的统计分析可以提供人类诱变的机制模型。