Evidence map›Paper›PMID 30840129›Full record

ReviewHuman genetics2019

How to increase our belief in discovered statistical interactions via large-scale association studies?

K Van Steen, J H Moore

Abstract readReview
In one paragraph

Review in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Testing for Genetic Interactions in Complex Disease With Distance Correlation.Biometrical journal. Biometrische Zeitschrift · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Genetic control of non-genetic inheritance in mammals: state-of-the-art and perspectives.Mammalian genome : official journal of the International Mammalian Genome Society · 2020
    Review
  13. 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

2 authors.

K Van SteenWELBIO, GIGA-R Medical Genomics-BIO3, University of Liège, Liege, Belgium. Kristel.VanSteen@uliege.be.ORCID http://orcid.org/0000-0001-9868-5033
J H MooreInstitute for Biomedical Informatics, University of Pennsylvania, Philadelphia, USA.

Funding

Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Biomedical Computing and Informatics Strategies for Infectious Disease ResearchR01AI116794 · NIAID · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H. · 2016 to 2020
$2.9M
National Institutes of Health AI116794National Institutes of Health LM010098NIAID NIH HHS R01 AI116794NLM NIH HHS R01 LM010098WELBIO WELBIO-CR-2015S-03R
6 · The paper itself

Abstract

The understanding that differences in biological epistasis may impact disease risk, diagnosis, or disease management stands in wide contrast to the unavailability of widely accepted large-scale epistasis analysis protocols. Several choices in the analysis workflow will impact false-positive and false-negative rates. One of these choices relates to the exploitation of particular modelling or testing strategies. The strengths and limitations of these need to be well understood, as well as the contexts in which these hold. This will contribute to determining the potentially complementary value of epistasis detection workflows and is expected to increase replication success with biological relevance. In this contribution, we take a recently introduced regression-based epistasis detection tool as a leading example to review the key elements that need to be considered to fully appreciate the value of analytical epistasis detection performance assessments. We point out unresolved hurdles and give our perspectives towards overcoming these.

Indexed as

Data Interpretation, StatisticalCultureEpistasis, GeneticFalse Positive ReactionsGenetic TestingGenome-Wide Association StudyHumansPolymorphism, Single Nucleotide

Identifiers

PMID30840129
PMCPMC6483943

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.