Evidence map›Paper›PMID 33141630›Full record

ArticleCirculation. Genomic and precision medicine2020

Elizabeth A Streeten, Vincent Y See, Linda B J Jeng, Kristin A Maloney, Megan Lynch, Andrew M Glazer, Tao Yang, Dan Roden, Toni I Pollin, Melanie Daue and 12 more

Open access · hybridAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.3field-weighted citation impact, top 16% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.American journal of medical genetics. Part A · 2025
    Article
  3. Attitudes toward returning pathogenicGenetics in medicine open · 2025
    Article
  4. Review
  5. Article
  6. Natural history of propionic acidemia in the Amish population.Molecular genetics and metabolism reports · 2022
    Article
  7. 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

22 authors at 3 institutions in 1 country.

Elizabeth A StreetenProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Vincent Y SeeDepartment of Medicine (E.A.S., V.Y.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., B.D.M.), University of Maryland School of Medicine.
Linda B J JengProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Kristin A MaloneyProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Megan LynchProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Andrew M GlazerDivision of Clinical Pharmacology, Department of Medicine (A.M.G., T.Y., D.R.), Vanderbilt University Medical Center, Nashville, TN.
Tao YangDivision of Clinical Pharmacology, Department of Medicine (A.M.G., T.Y., D.R.), Vanderbilt University Medical Center, Nashville, TN.
Dan RodenDivision of Clinical Pharmacology, Department of Medicine (A.M.G., T.Y., D.R.), Vanderbilt University Medical Center, Nashville, TN.
Toni I PollinProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Melanie DaueProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Kathleen A RyanProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Cristopher Van HoutRegeneron Genetics Center LLC, Tarrytown, NY (C.V.H., N.G., C.G.-J., A.E., A.R.S.).
Nehal GosaliaRegeneron Genetics Center LLC, Tarrytown, NY (C.V.H., N.G., C.G.-J., A.E., A.R.S.).
Claudia Gonzaga-JaureguiRegeneron Genetics Center LLC, Tarrytown, NY (C.V.H., N.G., C.G.-J., A.E., A.R.S.).
Aris EconomidesRegeneron Genetics Center LLC, Tarrytown, NY (C.V.H., N.G., C.G.-J., A.E., A.R.S.).
James A PerryProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Jeffrey O'ConnellProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Amber BeitelsheesProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Kathleen PalmerProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Braxton D MitchellProgram for Personalized and Genomic Medicine (E.A.S., L.B.J.J., K.A.M., M.L., T.I.P., M.D., K.A.R., J.A.P., J.O., A.B., K.P., B.D.M.), University of Maryland School of Medicine.
Alan R ShuldinerRegeneron Genetics Center LLC, Tarrytown, NY (C.V.H., N.G., C.G.-J., A.E., A.R.S.).
Regeneron Genetics Center*
University of Maryland, Baltimore · USRegeneron (United States) · USVanderbilt University Medical Center · US

Funding

Genome-wide Search for CVD Gene-Environment InteractionsU01HL072515 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2002 to 2008
$11.2M
Pharmacogenomics of CVD risk ReductionU01GM074518 · NIGMS · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2005 to 2009
$7.3M
Genetic Influences on Coronary Artery CalcificationR01HL088119 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D · 2007 to 2010
$2.8M
Cloning a Blood Pressure Gene on Human Chromosome 2q32.3R01HL076768 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI STEINLE, NANETTE I · 2005 to 2008
$2.1M
High-performance mixed model toolset for integrative omics analysis of big dataU01HL137181 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI O'CONNELL, JEFFREY R · 2017 to 2019
$1.8M
Genome-wide Association in Families: Data Integrity, Design and Methods IssueU01HL084756 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI O'CONNELL, JEFFREY R · 2006 to 2008
$880k
A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT SyndromeR21HG010412 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI BEITELSHEES, AMBER L · 2018 to 2019
$432k
A pipeline for identifying disease-causing variants in transmembrane proteinsK99HG010904 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, ANDREW M. · 2020 to 2021
$223k
NHGRI NIH HHS K99 HG010904NHGRI NIH HHS R21 HG010412NHLBI NIH HHS R01 HL076768NHLBI NIH HHS R01 HL088119NHLBI NIH HHS U01 HL072515NHLBI NIH HHS U01 HL084756NHLBI NIH HHS U01 HL137181NIGMS NIH HHS U01 GM074518
6 · The paper itself

Abstract

backgroundIn population-based research exome sequencing, the path from variant discovery to return of results is not well established. Variants discovered by research exome sequencing have the potential to improve population health.

methodsPopulation-based exome sequencing and agnostic ExWAS were performed 5521 Amish individuals. Additional phenotyping and in vitro studies enabled reclassification of a

resultsA missense variant was identified in

conclusionsThis work provides a framework by which research exome sequencing can be rapidly translated in a culturally appropriate manner to directly benefit research participants and enable population precision health.

Indexed as

Precision MedicineAmishDeath, Sudden, CardiacExomeFamilyFemaleFollow-Up StudiesHeterozygoteHumansKCNQ1 Potassium ChannelLong QT SyndromeMaleMiddle AgedMutationPedigreeKCNQ1 Potassium Channelexomegenetic counselinghumanpopulation healthsyncope

Identifiers

PMID33141630
PMCPMC7748050
OpenAlexW3095592446

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.