Evidence map›Paper›PMID 32425970›Full record

ArticleFrontiers in genetics2020

Exome Sequencing Analysis Identifies Rare Variants in

Ashley van der Spek, Sophie C Warner, Linda Broer, Christopher P Nelson, Dina Vojinovic, Shahzad Ahmad, Pascal P Arp, Rutger W W Brouwer, Matthew Denniff, Mirjam C G N van den Hout and 9 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 37% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

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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

19 authors at 3 institutions in 2 countries.

Ashley van der SpekDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Sophie C WarnerDepartment of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
Linda BroerDepartment of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Christopher P NelsonDepartment of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
Dina VojinovicDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Shahzad AhmadDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Pascal P ArpDepartment of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Rutger W W BrouwerCenter for Biomics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Matthew DenniffDepartment of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
Mirjam C G N van den HoutCenter for Biomics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Jeroen G J van RooijDepartment of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Robert KraaijDepartment of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Wilfred F J van IJckenCenter for Biomics, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
M Arfan IkramDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
André G UitterlindenDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Veryan CoddDepartment of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom.
Najaf AminDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Erasmus MC · NLUniversity of Leicester · GBGlenfield Hospital · GB

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
British Heart Foundation SP/16/4/32697NHGRI NIH HHS U54 HG003067
6 · The paper itself

Abstract

Telomeres are important for maintaining genomic stability. Telomere length has been associated with aging, disease, and mortality and is highly heritable (∼82%). In this study, we aimed to identify rare genetic variants associated with telomere length using whole-exome sequence data. We studied 1,303 participants of the Erasmus Rucphen Family (ERF) study, 1,259 of the Rotterdam Study (RS), and 674 of the British Heart Foundation Family Heart Study (BHF-FHS). We conducted two analyses, first we analyzed the family-based ERF study and used the RS and BHF-FHS for replication. Second, we combined the summary data of the three studies in a meta-analysis. Telomere length was measured by quantitative polymerase chain reaction in blood. We identified nine rare variants significantly associated with telomere length (

Indexed as

agingATMmeta-analysisRPL8telomerewhole exome sequencing

Identifiers

PMID32425970
PMCPMC7204400
OpenAlexW3021309718

What OpenQuestion holds

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LicenceCC BY
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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.