Evidence map›Paper›PMID 31676866›Full record

ArticleNature genetics2019

The impact of short tandem repeat variation on gene expression.

Stephanie Feupe Fotsing, Jonathan Margoliash, Catherine Wang, Shubham Saini, Richard Yanicky, Sharona Shleizer-Burko, Alon Goren, Melissa Gymrek

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 168 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
168citing papers in PubMed, 1 pooled it
12.4field-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

168 citing papers in PubMed, 1 synthesis or guideline pooled it, 320 citations in OpenAlex.

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108 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

8 authors at 2 institutions in 1 country.

Stephanie Feupe FotsingBiomedical Informatics and Systems Biology, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-8420-1234
Jonathan MargoliashDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0001-7292-8076
Catherine WangDepartment of Bioengineering, University of California San Diego, La Jolla, CA, USA.
Shubham SainiDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-1900-0284
Richard YanickyDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.
Sharona Shleizer-BurkoDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.
Alon GorenDepartment of Medicine, University of California San Diego, La Jolla, CA, USA.ORCID http://orcid.org/0000-0001-5669-9357
Melissa GymrekDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA. mgymrek@ucsd.edu.ORCID http://orcid.org/0000-0002-6086-3903
University of California San Diego · USLa Jolla Institute for Immunology · US

Funding

Systematic identification and interpretation of repetitive variants underlying schizophreniaDP5OD024577 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA · 2017 to 2021
$1.9M
NIH HHS DP5 OD024577
6 · The paper itself

Abstract

Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on gene expression thus far have had limited power to detect associations and provide insights into putative mechanisms. Here, we leverage whole-genome sequencing and expression data for 17 tissues from the Genotype-Tissue Expression Project to identify more than 28,000 STRs for which repeat number is associated with expression of nearby genes (eSTRs). We use fine-mapping to quantify the probability that each eSTR is causal and characterize the top 1,400 fine-mapped eSTRs. We identify hundreds of eSTRs linked with published genome-wide association study signals and implicate specific eSTRs in complex traits, including height, schizophrenia, inflammatory bowel disease and intelligence. Overall, our results support the hypothesis that eSTRs contribute to a range of human phenotypes, and our data should serve as a valuable resource for future studies of complex traits.

Indexed as

Gene Expression RegulationGenome, HumanGenome-Wide Association StudyPolymorphism, Single NucleotideQuantitative Trait LociBody HeightComputational BiologyHigh-Throughput Nucleotide SequencingHumansInflammatory Bowel DiseasesIntelligenceMicrosatellite RepeatsSchizophrenia

Identifiers

PMID31676866
PMCPMC6917484
OpenAlexW2988655273

What OpenQuestion holds

Textmetadata
LicenceTDM
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.