Evidence map›Paper›PMID 32369493›Full record

ArticlePLoS genetics2020

Accounting for long-range correlations in genome-wide simulations of large cohorts.

Dominic Nelson, Jerome Kelleher, Aaron P Ragsdale, Claudia Moreau, Gil McVean, Simon Gravel

Abstract read
In one paragraph

Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

39 citing papers in PubMed.

  1. Review
  2. Article
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  5. Article
  6. Recent population history in Swedish cattle breeds.Genetics, selection, evolution : GSE · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Likelihoods for a general class of ARGs under the SMC.bioRxiv : the preprint server for biology · 2025
    Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Dominic NelsonMcGill University and Genome Québec Innovation Centre, McGill University, Montréal, Québec, Canada.ORCID 0000-0003-2496-8588
Jerome KelleherBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.ORCID 0000-0002-7894-5253
Aaron P RagsdaleMcGill University and Genome Québec Innovation Centre, McGill University, Montréal, Québec, Canada.ORCID 0000-0003-0715-3432
Claudia MoreauCentre Intersectoriel en Santé Durable, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.ORCID 0000-0002-1480-3045
Gil McVeanBig Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.ORCID 0000-0002-5012-4162
Simon GravelMcGill University and Genome Québec Innovation Centre, McGill University, Montréal, Québec, Canada.ORCID 0000-0002-9183-964X

Funding

CIHR MOP-136855Wellcome Trust 100956/Z/13/Z
6 · The paper itself

Abstract

Coalescent simulations are widely used to examine the effects of evolution and demographic history on the genetic makeup of populations. Thanks to recent progress in algorithms and data structures, simulators such as the widely-used msprime now provide genome-wide simulations for millions of individuals. However, this software relies on classic coalescent theory and its assumptions that sample sizes are small and that the region being simulated is short. Here we show that coalescent simulations of long regions of the genome exhibit large biases in identity-by-descent (IBD), long-range linkage disequilibrium (LD), and ancestry patterns, particularly when the sample size is large. We present a Wright-Fisher extension to msprime, and show that it produces more realistic distributions of IBD, LD, and ancestry proportions, while also addressing more subtle biases of the coalescent. Further, these extensions are more computationally efficient than state-of-the-art coalescent simulations when simulating long regions, including whole-genome data. For shorter regions, efficiency can be maintained via a hybrid model which simulates the recent past under the Wright-Fisher model and uses coalescent simulations in the distant past.

Indexed as

AlgorithmsModels, GeneticBase SequenceCohort StudiesComputer SimulationEvolution, MolecularGenetics, PopulationGenomeGenome-Wide Association StudyHumansLinkage DisequilibriumRecombination, GeneticSample Size

Identifiers

PMID32369493
PMCPMC7266353

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.