A general and efficient representation of ancestral recombination graphs

Yan Wong, Anastasia Ignatieva, Jere Koskela, Gregor Gorjanc, Anthony W Wohns, Jerome Kelleher

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Article numberiyae100
Pages (from-to)1-18
Number of pages18
JournalGenetics
Volume228
Issue number1
Early online date16 Jul 2024
DOIs
Publication statusPublished - 4 Sept 2024

Keywords / Materials (for Non-textual outputs)

  • Evolution, Molecular
  • Genome
  • Humans
  • Models, Genetic
  • Recombination, Genetic
  • Software

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