Evidence map›Paper›PMID 21934324›Full record

ArticleHuman heredity2011

Power of data mining methods to detect genetic associations and interactions.

Annette M Molinaro, Nicholas Carriero, Robert Bjornson, Patricia Hartge, Nathaniel Rothman, Nilanjan Chatterjee

Open access · bronzeAbstract read
In one paragraph

Article in Human heredity, 2011. 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
2.0field-weighted citation impact, top 13% 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, 25 citations in OpenAlex.

  1. Assessment of the association between dust storms and COVID-19 infection rate in southwest Iran.Environmental science and pollution research international · 2022
    Article
  2. Review
  3. Identification of epistasis loci underlying rice flowering time by controlling population stratification and polygenic effect.DNA research : an international journal for rapid publication of reports on genes and genomes · 2019
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Detecting epistasis in human complex traits.Nature reviews. Genetics · 2014
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. 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

6 authors at 2 institutions in 1 country.

Annette M MolinaroDivision of Biostatistics, School of Public Health, Yale University, New Haven, Conn., USA. annette.molinaro @ yale.edu
Nicholas Carriero
Robert Bjornson
Patricia Hartge
Nathaniel Rothman
Nilanjan Chatterjee
National Institutes of Health · USYale University · US

Funding

YALE UNIVERSITY CLINICAL AND TRANSLATIONAL SCIENCE AWARD PROGRAMUL1RR024139 · NCRR · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2006 to 2011
$56.8M
Methods for Epidemiology StudiesZIACP010181 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI ALBERT, PAUL · 2009 to 2025
$34.8M
YALE BIOMEDICAL SUPERCOMPUTER: NEUROSCIENCES10RR019895 · NCRR · YALE UNIVERSITY · PI WILLIAMS, KENNETH ROBERT · 2004 to 2004
$1.6M
Statistical Methods for Predicting Survival Outcomes from Genomic DataK22CA123146 · NCI · YALE UNIVERSITY · PI MOLINARO, ANNETTE M · 2006 to 2008
$478k
NCI NIH HHS K-22 CA123146NCI NIH HHS K22 CA123146NCRR NIH HHS RR19895NCRR NIH HHS S10 RR019895NCRR NIH HHS UL1 RR024139
6 · The paper itself

Abstract

backgroundGenetic association studies, thus far, have focused on the analysis of individual main effects of SNP markers. Nonetheless, there is a clear need for modeling epistasis or gene-gene interactions to better understand the biologic basis of existing associations. Tree-based methods have been widely studied as tools for building prediction models based on complex variable interactions. An understanding of the power of such methods for the discovery of genetic associations in the presence of complex interactions is of great importance. Here, we systematically evaluate the power of three leading algorithms: random forests (RF), Monte Carlo logic regression (MCLR), and multifactor dimensionality reduction (MDR).

methodsWe use the algorithm-specific variable importance measures (VIMs) as statistics and employ permutation-based resampling to generate the null distribution and associated p values. The power of the three is assessed via simulation studies. Additionally, in a data analysis, we evaluate the associations between individual SNPs in pro-inflammatory and immunoregulatory genes and the risk of non-Hodgkin lymphoma.

resultsThe power of RF is highest in all simulation models, that of MCLR is similar to RF in half, and that of MDR is consistently the lowest.

conclusionsOur study indicates that the power of RF VIMs is most reliable. However, in addition to tuning parameters, the power of RF is notably influenced by the type of variable (continuous vs. categorical) and the chosen VIM.

Indexed as

Epistasis, GeneticGenetic Association StudiesAlgorithmsComputer SimulationData MiningGenetic LociGenome, HumanHaplotypesHumansLymphoma, Non-HodgkinMonte Carlo MethodPolymorphism, Single Nucleotide

Identifiers

PMID21934324
PMCPMC3222116
OpenAlexW2047860559

What OpenQuestion holds

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Registered trials

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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.