Evidence map›Paper›PMID 36335127›Full record

ArticleNature communications2022

Parent-of-Origin inference for biobanks.

Robin J Hofmeister, Simone Rubinacci, Diogo M Ribeiro, Alfonso Buil, Zoltán Kutalik, Olivier Delaneau

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 3% 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

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.

  1. Genome-Wide Search for Nonadditive Allele Effects IdentifiesJournal of the American Heart Association · 2024
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Abundant Parent-of-origin Effect eQTL: The Framingham Heart Study.bioRxiv : the preprint server for biology · 2025
    Article
  15. Article
  16. 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 at 2 institutions in 2 countries.

Robin J HofmeisterDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-9965-595X
Simone RubinacciDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-7725-4813
Diogo M RibeiroDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0002-0482-7342
Alfonso BuilInstitute of Biological Psychiatry, Mental Health Services, Copenhagen University Hospital, Copenhagen, Denmark.ORCID 0000-0002-1863-164X
Zoltán KutalikDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.ORCID 0000-0001-8285-7523
Olivier DelaneauDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland. olivier.delaneau@unil.ch.ORCID 0000-0002-3906-8446
SIB Swiss Institute of Bioinformatics · CHUniversity of Copenhagen · DK

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Identical genetic variations can have different phenotypic effects depending on their parent of origin. Yet, studies focusing on parent-of-origin effects have been limited in terms of sample size due to the lack of parental genomes or known genealogies. We propose a probabilistic approach to infer the parent-of-origin of individual alleles that does not require parental genomes nor prior knowledge of genealogy. Our model uses Identity-By-Descent sharing with second- and third-degree relatives to assign alleles to parental groups and leverages chromosome X data in males to distinguish maternal from paternal groups. We combine this with robust haplotype inference and haploid imputation to infer the parent-of-origin for 26,393 UK Biobank individuals. We screen 99 phenotypes for parent-of-origin effects and replicate the discoveries of 6 GWAS studies, confirming signals on body mass index, type 2 diabetes, standing height and multiple blood biomarkers, including the known maternal effect at the MEG3/DLK1 locus on platelet phenotypes. We also report a novel maternal effect at the TERT gene on telomere length, thereby providing new insights on the heritability of this phenotype. All our summary statistics are publicly available to help the community to better characterize the molecular mechanisms leading to parent-of-origin effects and their implications for human health.

Indexed as

Diabetes Mellitus, Type 2AllelesBiological Specimen BanksFemaleGenome-Wide Association StudyHumansMalePhenotype

Identifiers

PMID36335127
PMCPMC9637181
OpenAlexW4308451241

What OpenQuestion holds

Textmetadata
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.