Evidence map›Paper›PMID 23250897›Full record

ArticleCirculation. Cardiovascular genetics2012

Action and the actionability in exome variation.

Calum A MacRae

Registry-linked trialAbstract readEditorialComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Cardiovascular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01736566 (The MedSeq Project Pilot Study), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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.

NCT01736566 nacompletednot on this map

The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine

TypeinterventionalSponsorBrigham and Women's HospitalRan2011 to 2021Enrolled213ConditionsHealthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated CardiomyopathyArmsFamily History + Whole Genome Sequencing, Family History Only
3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.Proceedings of the National Academy of Sciences of the United States of America · 2016
    Article
  2. Review
  3. Genetic testing in cardiovascular diseases.Current opinion in cardiology · 2014
    Review
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author.

Calum A MacRae

Funding

Integration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5M
The Genetic Basis of the GAPO Progeroid SyndromeR21AG037925 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI MACRAE, CALUM A. · 2012 to 2013
$479k
NHGRI NIH HHS HG006500NHGRI NIH HHS U01 HG006500NIA NIH HHS AG037925NIA NIH HHS R21 AG037925
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationCardiomyopathiesHumansSarcomeres

Identifiers

PMID23250897
PMCPMC3834266

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.