Evidence map›Paper›PMID 23524054›Full record

ReviewJournal of the American College of Cardiology2013

Genomics in cardiovascular disease.

Robert Roberts, A J Marian, Sonny Dandona, Alexandre F R Stewart

Abstract readReview
In one paragraph

Review in Journal of the American College of Cardiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
4.4field-weighted citation impact, top 6% 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

14 citing papers in PubMed, 51 citations in OpenAlex.

  1. Article
  2. Review
  3. Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025
    Review
  4. Review
  5. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Modeling human disease in rodents by CRISPR/Cas9 genome editing.Mammalian genome : official journal of the International Mammalian Genome Society · 2017
    Review
  12. Review
  13. Inherited Arrhythmias - Where do we Stand?Arrhythmia & electrophysiology review · 2014
    Article
  14. Pharmacogenetics of heart failure.Current opinion in cardiology · 2014
    Review
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

4 authors at 3 institutions in 2 countries.

Robert RobertsUniversity of Ottawa Heart Institute, Ottawa, Ontario, Canada. rroberts@ottawaheart.ca
A J Marian
Sonny Dandona
Alexandre F R Stewart
University of Ottawa · CAMcGill University · CAThe University of Texas Health Science Center at Houston · US

Funding

Canonical Wnt Signaling in Pathogenesis and Rescue of ARVC PhenotypeR01HL088498 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2008 to 2017
$3.4M
Hypertrophy Regression with N-Acetylcysteine in Hypertrophic CardiomyopathyR34HL105563 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2012 to 2014
$569k
Mouse Models of Non-Syndromic Cardiac ProgeriaR21AG038597 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MARIAN, ALI J · 2011 to 2012
$338k
CIHR MOP77682CIHR MOP82810NHLBI NIH HHS R01 HL088498NHLBI NIH HHS R34 HL105563NHLBI NIH HHS R34HL105563NIA NIH HHS R21 AG038597NIA NIH HHS R21 AG038597-01PHS HHS R01-088498
6 · The paper itself

Abstract

A paradigm shift toward biology occurred in the 1990s and was subsequently catalyzed by the sequencing of the human genome in 2000. The cost of deoxyribonucleic acid (DNA) sequencing has gone from millions to thousands of dollars with sequencing of one's entire genome costing only $1,000. Rapid DNA sequencing is being embraced for single gene disorders, particularly for sporadic cases and those from small families. Transmission of lethal genes such as associated with Huntington's disease can, through in vitro fertilization, avoid passing it on to one's offspring. DNA sequencing will meet the challenge of elucidating the genetic predisposition for common polygenic diseases, especially in determining the function of the novel common genetic risk variants and identifying the rare variants, which may also partially ascertain the source of the missing heritability. The challenge for DNA sequencing remains great, despite human genome sequences being 99.5% identical, the 3 million single nucleotide polymorphisms responsible for most of the unique features add up to 40 to 60 new mutations per person which, for 7 billion people, is 300 to 400 billion mutations. It is claimed that DNA sequencing has increased 10,000-fold while information storage and retrieval only 16-fold. The physician and health user will be challenged by the convergence of 2 major trends, whole genome sequencing, and the storage/retrieval and integration of the data.

Indexed as

Genetic TechniquesGenome, HumanGenomicsPrecision MedicineCardiovascular DiseasesHumans

Identifiers

PMID23524054
PMCPMC3683584
OpenAlexW1965991301

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.