Evidence map›Paper›PMID 29237683›Full record

ArticleCirculation. Cardiovascular genetics2017

Pathogenicity of De Novo Rare Variants: Challenges and Opportunities.

Arya Mani

Abstract readEditorialComment
In one paragraph

Article in Circulation. Cardiovascular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
–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.

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

12 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Human mutation · 2026
    Review
  5. Article
  6. What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Genes · 2022
    Article
  12. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author.

Arya ManiFrom the Department of Internal Medicine, Department of Genetics, Yale School of Medicine, New Haven, CT. arya.mani@yale.edu.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The Identification and characterization of genetic variants underlying cardiovascular diseasesR35HL135767 · NHLBI · YALE UNIVERSITY · PI MANI, ARYA · 2017 to 2023
$7.0M
NCATS NIH HHS UL1 TR001863NHLBI NIH HHS R35 HL135767
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ExomeGenetic VariationHeart DiseasesHumansVirulencearrhythmias, cardiacEditorialsexomegenetic variationheart disease, congenital

Identifiers

PMID29237683
PMCPMC5734671

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.