Evidence map›Paper›PMID 23888168›Full record

ArticleFrontiers in genetics2013

Evaluation of genetic risk score models in the presence of interaction and linkage disequilibrium.

Ronglin Che, Alison A Motsinger-Reif

Abstract read
In one paragraph

Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing 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.

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3 · Its place in the literature

Who cites it

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

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  13. Machine and Deep Learning in Molecular and Genetic Aspects of Sleep Research.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021
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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.

Ronglin CheDepartment of Statistics, Bioinformatics Research Center, North Carolina State University Raleigh, NC, USA.
Alison A Motsinger-Reif

Funding

Genetic Basis of Genotype-by-Environment Interactions Underlying Physiological MoR01GM098856 · NIGMS · UNIVERSITY OF ALABAMA IN TUSCALOOSA · PI MOTSINGER-REIF, ALISON, REED, LAURA K · 2011 to 2015
$1.3M
NIGMS NIH HHS R01 GM098856
6 · The paper itself

Abstract

In the area of genetic epidemiology, genetic risk predictive modeling is becoming an important area of translational success. As an increasing number of genetic variants are successfully discovered, the use of multiple genetic variants in constructing a genetic risk score (GRS) for modeling has been widely applied using a variety of approaches. Previously, we compared the performance of a simple, additive GRS with weighted GRS approaches, but our initial simulation experiment assumed very simple models without many of the complications found in real genetic studies. In particular, interactions between variants and linkage disequilibrium (LD) (indirect mapping) remain important and challenging problems for GRS modeling. In the present study, we applied two simulation strategies to mimic various types of epistasis to evaluate their impact on the performance of the GRS models. We simulated a range of models demonstrating statistical interaction and linkage disequilibrium. Three genetic risk models were compared in terms of power, type I error, C-statistic and AIC, including a simple count GRS (SC-GRS), an odds ratio weighted GRS (OR-GRS) and an explained variance weighted GRS (EV-GRS). Simulation factors of interest included allele frequencies, effect sizes, strengths of interaction, degrees of LD and heritability. We extensively examined the extent to how these interactions could influence the performance of genetic risk models. Our results show that the weighted methods outperform simple count method in general even if interaction or LD is present, with well controlled type I error.

Indexed as

explained variancegenetic risk score (GRS)interactionlinkage disequilibrium (LD)predictive modeling

Identifiers

PMID23888168
PMCPMC3719135

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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.