Evidence map›Paper›PMID 36509785›Full record

ArticleNature communications2022

Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes.

Frank R Wendt, Gita A Pathak, Renato Polimanti

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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. A deep population reference panel of tandem repeat variation.bioRxiv : the preprint server for biology · 2023
    Article
  8. 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

3 authors at 2 institutions in 2 countries.

Frank R WendtDepartment of Anthropology, University of Toronto, Mississauga, ON, Canada. frank.wendt@utoronto.ca.ORCID 0000-0002-2108-6822
Gita A PathakDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, USA.
Renato PolimantiDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-0745-6046
Yale University · USUniversity of Toronto · CA

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Investigating the Systems Genetics of the Patterns of Polysubstance Abuse and AddictionR33DA047527 · NIDA · YALE UNIVERSITY · PI POLIMANTI, RENATO · 2021 to 2023
$2.0M
Genome-wide Investigation of the Interplay Between Age-Related Hearing Loss and Smoking BehaviorsR21DC018098 · NIDCD · YALE UNIVERSITY · PI POLIMANTI, RENATO · 2019 to 2021
$440k
Investigating the Systems Genetics of the Patterns of Polysubstance Abuse and AddictionR21DA047527 · NIDA · YALE UNIVERSITY · PI POLIMANTI, RENATO · 2019 to 2020
$369k
Decoding the Sex-Specific Biological Mechanisms of Psychiatric Disorders Using Genome-Wide AnalysesF32MH122058 · NIMH · YALE UNIVERSITY · PI WENDT, FRANK · 2020 to 2021
$118k
Medical Research Council MC_PC_17228NCATS NIH HHS UL1 TR001863NIDA NIH HHS R21 DA047527NIDA NIH HHS R33 DA047527NIDCD NIH HHS R21 DC018098NIMH NIH HHS F32 MH122058
6 · The paper itself

Abstract

When present in coding regions, tandem repeats (TRs) may have large effects on protein structure and function contributing to health and disease. We use a family-based design to identify de novo TRs and assess their impact at the population level in 148,607 European ancestry participants from the UK Biobank. The 427 loci with de novo TR mutations are enriched for targets of microRNA-184 (21.1-fold, P = 4.30 × 10

Indexed as

Biological Specimen BanksCarotid Intima-Media ThicknessGenome-Wide Association StudyPhenotypePolymorphism, Single NucleotideProteinsTandem Repeat SequencesUnited KingdomProteins

Identifiers

PMID36509785
PMCPMC9744822
OpenAlexW4311219478

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.