Evidence map›Paper›PMID 24948778›Full record

ArticleGenetics2014

Genome-wide linkage-disequilibrium profiles from single individuals.

Michael Lynch, Sen Xu, Takahiro Maruki, Xiaoqian Jiang, Peter Pfaffelhuber, Bernhard Haubold

Abstract read
In one paragraph

Article in Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing 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

22 citing papers in PubMed.

  1. Article
  2. Linkage equilibrium between rare mutations.bioRxiv : the preprint server for biology · 2024
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Evolutionary Genomics of a Subdivided Species.Molecular biology and evolution · 2022
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls.Database : the journal of biological databases and curation · 2020
    Article
  15. Article
  16. Population Genomics ofGenetics · 2017
    Article
  17. Article
  18. Review
  19. Toward high-resolution population genomics using archaeological samples.DNA research : an international journal for rapid publication of reports on genes and genomes · 2016
    Review
  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.

Michael LynchDepartment of Biology, Indiana University, Bloomington, Indiana 47401.
Sen XuDepartment of Biology, Indiana University, Bloomington, Indiana 47401.
Takahiro MarukiDepartment of Biology, Indiana University, Bloomington, Indiana 47401.
Xiaoqian JiangDepartment of Biology, Indiana University, Bloomington, Indiana 47401.
Peter PfaffelhuberFaculty of Mathematics and Physics, University of Freiburg, Freiburg 79104, Germany.
Bernhard HauboldDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Plön 24306, Germany.

Funding

The Rate and Molecular Spectrum of Spontaneous MutationsR01GM036827 · NIGMS · UNIVERSITY OF OREGON · PI LYNCH, MICHAEL R · 1988 to 2016
$5.7M
Population Genomics of Daphnia pulexR01GM101672 · NIGMS · TRUSTEES OF INDIANA UNIVERSITY · PI LYNCH, MICHAEL R · 2013 to 2016
$2.3M
NIGMS NIH HHS GM101672NIGMS NIH HHS R01 GM036827NIGMS NIH HHS R01 GM101672
6 · The paper itself

Abstract

Although the analysis of linkage disequilibrium (LD) plays a central role in many areas of population genetics, the sampling variance of LD is known to be very large with high sensitivity to numbers of nucleotide sites and individuals sampled. Here we show that a genome-wide analysis of the distribution of heterozygous sites within a single diploid genome can yield highly informative patterns of LD as a function of physical distance. The proposed statistic, the correlation of zygosity, is closely related to the conventional population-level measure of LD, but is agnostic with respect to allele frequencies and hence likely less prone to outlier artifacts. Application of the method to several vertebrate species leads to the conclusion that >80% of recombination events are typically resolved by gene-conversion-like processes unaccompanied by crossovers, with the average lengths of conversion patches being on the order of one to several kilobases in length. Thus, contrary to common assumptions, the recombination rate between sites does not scale linearly with distance, often even up to distances of 100 kb. In addition, the amount of LD between sites separated by <200 bp is uniformly much greater than can be explained by the conventional neutral model, possibly because of the nonindependent origin of mutations within this spatial scale. These results raise questions about the application of conventional population-genetic interpretations to LD on short spatial scales and also about the use of spatial patterns of LD to infer demographic histories.

Indexed as

Genome, HumanLinkage DisequilibriumModels, GeneticAnimalsGene ConversionGene FrequencyHeterozygoteHumansgene conversionlinkage disequilibriumpopulation genomicsrecombination

Identifiers

PMID24948778
PMCPMC4174938

What OpenQuestion holds

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Registered trials

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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.