A forest is more than its trees: haplotypes and ancestral recombination graphs.

Foreshadowing haplotype-based methods of the genomics era, it is an old observation that the "junction" between two distinct haplotypes produced by recombination is inherited as a Mendelian marker. In a genealogical context, this recombination-mediated information reflects the persistence of ancestr...

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Publicado en:Genetics Vol. 232; no. 1; pp. 1 - 13
Autores principales: Fritze, Halley, Pope, Nathaniel, Kelleher, Jerome, Ralph, Peter
Formato: algorithm equations & formulas tables/charts Journal Article
Publicado: Oxford University Press / USA Jan2026
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jan2026
      vid: 232
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      pub: Oxford University Press / USA
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        10.1093/genetics/iyaf198
        190773575
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        atl: A forest is more than its trees: haplotypes and ancestral recombination graphs.
      aug:
        au:
          Fritze, Halley
          Pope, Nathaniel
          Kelleher, Jerome
          Ralph, Peter
        affil: Department of Mathematics, University of Oregon, Eugene, Oregon 97403, United States
      sug:
        subj:
          Haplotypes
          Genomics
          Phylogenetics
          Bioinformatics
          DNA, Recombinant Physiology
          Algorithms
          Human
          Funding Source
          Models, Biological
          DNA
          Sequence Analysis
          Data Analysis, Statistical
          Genetic Variation
          Simulations
          Comparative Studies
          Nucleotides
          Genetic Markers
          Mutation
          Hereditary Diseases Risk Factors
          Evolution
          Molecular Biology
      ab: Foreshadowing haplotype-based methods of the genomics era, it is an old observation that the "junction" between two distinct haplotypes produced by recombination is inherited as a Mendelian marker. In a genealogical context, this recombination-mediated information reflects the persistence of ancestral haplotypes across local genealogical trees in which they do not represent coalescences. We show how these non-coalescing haplotypes ("locally-unary nodes") may be inserted into ancestral recombination graphs, a compact but information-rich data structure describing the genealogical relationships among recombinant sequences. The resulting ancestral recombination graphs are smaller, faster to compute with, and the additional ancestral information that is inserted is nearly always correct where the initial ancestral recombination graph is correct. We provide efficient algorithms to infer locally-unary nodes within existing ancestral recombination graphs, and explore some consequences for ancestral recombination graphs inferred from real data. To do this, we introduce new metrics of agreement and disagreement between ancestral recombination graphs that, unlike previous methods, consider ancestral recombination graphs as describing relationships between haplotypes rather than just a collection of trees.
      pubtype: Academic Journal
      doctype:
        algorithm
        equations & formulas
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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