Evidence map›Paper›PMID 23842528›Full record

ArticleMolecular biology and evolution2013

Inferring demography from runs of homozygosity in whole-genome sequence, with correction for sequence errors.

Iona M MacLeod, Denis M Larkin, Harris A Lewin, Ben J Hayes, Mike E Goddard

Abstract read
In one paragraph

Article in Molecular biology and evolution, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.

0numbers the graph read from it
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60citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

60 citing papers in PubMed.

  1. Article
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  5. Recent population history in Swedish cattle breeds.Genetics, selection, evolution : GSE · 2026
    Article
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  8. A Similarity Matrix for Preserving Haplotype Diversity Amongst Parents in Genomic Selection.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2025
    Article
  9. Article
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  15. Swine global genomic resources: insights into wild and domesticated populations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023
    Article
  16. Article
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  19. Article
  20. Conservation management strategy impacts inbreeding and mutation load in scimitar-horned oryx.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors.

Iona M MacLeodDepartment of Agriculture and Food Systems, Melbourne School of Land and Environment, University of Melbourne, Victoria, Australia. macleodi@unimelb.edu.au
Denis M Larkin
Harris A Lewin
Ben J Hayes
Mike E Goddard

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole-genome sequence is potentially the richest source of genetic data for inferring ancestral demography. However, full sequence also presents significant challenges to fully utilize such large data sets and to ensure that sequencing errors do not introduce bias into the inferred demography. Using whole-genome sequence data from two Holstein cattle, we demonstrate a new method to correct for bias caused by hidden errors and then infer stepwise changes in ancestral demography up to present. There was a strong upward bias in estimates of recent effective population size (Ne) if the correction method was not applied to the data, both for our method and the Li and Durbin (Inference of human population history from individual whole-genome sequences. Nature 475:493-496) pairwise sequentially Markovian coalescent method. To infer demography, we use an analytical predictor of multiloci linkage disequilibrium (LD) based on a simple coalescent model that allows for changes in Ne. The LD statistic summarizes the distribution of runs of homozygosity for any given demography. We infer a best fit demography as one that predicts a match with the observed distribution of runs of homozygosity in the corrected sequence data. We use multiloci LD because it potentially holds more information about ancestral demography than pairwise LD. The inferred demography indicates a strong reduction in the Ne around 170,000 years ago, possibly related to the divergence of African and European Bos taurus cattle. This is followed by a further reduction coinciding with the period of cattle domestication, with Ne of between 3,500 and 6,000. The most recent reduction of Ne to approximately 100 in the Holstein breed agrees well with estimates from pedigrees. Our approach can be applied to whole-genome sequence from any diploid species and can be scaled up to use sequence from multiple individuals.

Indexed as

CattleGenetics, PopulationGenomeHomozygotePhylogenyAnimalsFemaleGenetic LociHaplotypesLinkage DisequilibriumMaleMarkov ChainsModels, GeneticPolymorphism, Single NucleotidePopulation DensitySequence Analysis, DNAeffective population sizehaplotype homozygositylinkage disequilibriumnext generation sequencingPSMC

Identifiers

PMID23842528
PMCPMC3748359

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.