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A general and efficient representation of ancestral recombination graphs

Abstract:
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. This approach is out of step with some modern developments, however, 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 generalises 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.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/genetics/iyae100

Authors

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Big Data Institute
Role:
Author


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Funder identifier:
https://ror.org/0439y7842
Grant:
EP/X024881/1


Publisher:
Oxford University Press
Journal:
Genetics More from this journal
Volume:
228
Issue:
1
Article number:
iyae100
Publication date:
2024-06-19
Acceptance date:
2024-06-05
DOI:
EISSN:
1943-2631
ISSN:
0016-6731


Language:
English
Keywords:
Pubs id:
2009152
Local pid:
pubs:2009152
Deposit date:
2024-06-19
ARK identifier:

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