Evidence map›Paper›PMID 28567521›Full record

ArticleHuman genetics2017

Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.

Christina A Markunas, Eric O Johnson, Dana B Hancock

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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.

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

8 citing papers in PubMed.

  1. Smoking-informed methylation and expression QTLs in human brain and colocalization with smoking-associated genetic loci.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024
    Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. 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

3 authors.

Christina A MarkunasBehavioral Health and Criminal Justice Division, RTI International, Research Triangle Park, NC, USA. cmarkunas@rti.org.
Eric O JohnsonBehavioral Health and Criminal Justice Division, RTI International, Research Triangle Park, NC, USA.
Dana B HancockBehavioral Health and Criminal Justice Division, RTI International, Research Triangle Park, NC, USA.

Funding

Utilizing Interaction to Identify Novel Genetic Factors for Nicotine DependenceR01DA035825 · NIDA · RESEARCH TRIANGLE INSTITUTE · PI HANCOCK, DANA B · 2013 to 2015
$1.5M
NIDA NIH HHS R01 DA035825
6 · The paper itself

Abstract

Genome-wide association study (GWAS)-identified variants are enriched for functional elements. However, we have limited knowledge of how functional enrichment may differ by disease/trait and tissue type. We tested a broad set of eight functional elements for enrichment among GWAS-identified SNPs (p < 5×10

Indexed as

Genome-Wide Association StudyPhenotypePolymorphism, Single NucleotideAnthropometryAutoimmune DiseasesCardiovascular DiseasesDiabetes MellitusGene FrequencyHumansLinkage DisequilibriumMental DisordersMutation, MissenseNeoplasmsNervous System DiseasesPromoter Regions, GeneticQuantitative Trait Loci

Identifiers

What OpenQuestion holds

Textmetadata
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.