A general and efficient representation of ancestral recombination graphs

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 a...

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Main Authors: Wong, HY, Ignatieva, A, Koskela, J, Gorjanc, G, Wohns, AW, Kelleher, J
Format: Journal article
Language:English
Published: Oxford University Press 2024
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author Wong, HY
Ignatieva, A
Koskela, J
Gorjanc, G
Wohns, AW
Kelleher, J
author_facet Wong, HY
Ignatieva, A
Koskela, J
Gorjanc, G
Wohns, AW
Kelleher, J
author_sort Wong, HY
collection OXFORD
description 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.
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spelling oxford-uuid:1d57ed92-6b69-4a9c-8841-4790b4541ac62025-02-17T11:15:41ZA general and efficient representation of ancestral recombination graphsJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:1d57ed92-6b69-4a9c-8841-4790b4541ac6EnglishSymplectic ElementsOxford University Press2024Wong, HYIgnatieva, AKoskela, JGorjanc, GWohns, AWKelleher, JAs 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.
spellingShingle Wong, HY
Ignatieva, A
Koskela, J
Gorjanc, G
Wohns, AW
Kelleher, J
A general and efficient representation of ancestral recombination graphs
title A general and efficient representation of ancestral recombination graphs
title_full A general and efficient representation of ancestral recombination graphs
title_fullStr A general and efficient representation of ancestral recombination graphs
title_full_unstemmed A general and efficient representation of ancestral recombination graphs
title_short A general and efficient representation of ancestral recombination graphs
title_sort general and efficient representation of ancestral recombination graphs
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