Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.
School of Mathematics and Statistics, University of Glasgow, Glasgow G12 8TA, UK.
Genetics. 2024 Sep 4;228(1). doi: 10.1093/genetics/iyae100.
As a result of recombination, adjacent nucleotides can have different paths of genetic inheritance and therefore the genealogical trees for a sample of DNA sequences vary along the genome. The structure capturing the details of these intricately interwoven paths of inheritance is referred to as an ancestral recombination graph (ARG). Classical formalisms have focused on mapping coalescence and recombination events to the nodes in an ARG. However, this approach is out of step with some modern developments, which do not represent genetic inheritance in terms of these events or explicitly infer them. We present a simple formalism that defines an ARG in terms of specific genomes and their intervals of genetic inheritance, and show how it generalizes these classical treatments and encompasses the outputs of recent methods. We discuss nuances arising from this more general structure, and argue that it forms an appropriate basis for a software standard in this rapidly growing field.
由于重组,相邻的核苷酸可能具有不同的遗传途径,因此样本 DNA 序列的系统发生树沿着基因组而变化。捕获这些错综复杂的遗传途径细节的结构称为祖先重组图(ARG)。经典形式主义侧重于将并合和重组事件映射到 ARG 中的节点。但是,这种方法与一些现代发展不符,这些发展不以这些事件或以显式推断它们来表示遗传继承。我们提出了一种简单的形式主义,它根据特定的基因组及其遗传间隔来定义 ARG,并展示了它如何推广这些经典处理方法并包含最近方法的输出。我们讨论了这种更通用结构产生的细微差别,并认为它为这个快速发展的领域的软件标准提供了合适的基础。