Evidence map›Paper›PMID 29335644›Full record

ReviewNature reviews. Genetics2018

Runs of homozygosity: windows into population history and trait architecture.

Francisco C Ceballos, Peter K Joshi, David W Clark, Michèle Ramsay, James F Wilson

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 505 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
505citing papers in PubMed, 3 pooled it
53.7field-weighted citation impact, top 1% of its field
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

505 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,044 citations in OpenAlex.

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  8. Appreciating diversity: a review of the Iranian genomic landscape.European journal of human genetics : EJHG · 2026
    Review
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445 more citing papers are in PubMed but not listed here.

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

5 authors at 4 institutions in 2 countries.

Francisco C CeballosSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Parktown 2193, Johannesburg, South Africa.
Peter K JoshiCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK.
David W ClarkCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK.
Michèle RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Parktown 2193, Johannesburg, South Africa.
James F WilsonMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
University of Edinburgh · GBMedical Research Council · GBUniversity of the Witwatersrand · ZAWestern General Hospital · GB

Funding

Shared Core: Biobanking, Bioinformatics and Data ManagementU54HG006938 · NHGRI · WITS HEALTH CONSORTIUM (PTY), LTD · PI RAMSAY, MICHELE MICHELE · 2012 to 2022
$12.2M
Medical Research Council MC_UU_00007/10NHGRI NIH HHS U54 HG006938
6 · The paper itself

Abstract

Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk.

Indexed as

ConsanguinityGenome, HumanGenome-Wide Association StudyHomozygoteFemaleHumansMale

Identifiers

PMID29335644
OpenAlexW2784309373

What OpenQuestion holds

Textmetadata
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.