Evidence map›Paper›PMID 31765077›Full record

ReviewCurrent protocols in human genetics2019

Genetic Risk Scores.

Robert P Igo, Tyler G Kinzy, Jessica N Cooke Bailey

Abstract readReview
In one paragraph

Review in Current protocols in human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 2 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

82 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  19. Genotype Combinations and Genetic Risk Score Analyses ofCurrent issues in molecular biology · 2025
    Article
  20. Article

22 more citing papers are in PubMed but not listed here.

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.

Robert P IgoDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Tyler G KinzyDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.
Jessica N Cooke BaileyDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.

Funding

Clinical and Translational Science Collaborative of ClevelandKL2TR000440 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI KONSTAN, MICHAEL W. · 2012 to 2016
$11.1M
Institutional Career Development CoreKL2TR002547 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI DWEIK, RAED A. · 2018 to 2022
$7.7M
NCATS NIH HHS KL2 TR000440NCATS NIH HHS KL2 TR002547
6 · The paper itself

Abstract

Genome-wide variation data with millions of genetic markers have become commonplace. However, the potential for interpretation and application of these data for clinical assessment of outcomes of interest, and prediction of disease risk, is currently not fully realized. Many common complex diseases now have numerous, well-established risk loci and likely harbor many genetic determinants with effects too small to be detected at genome-wide levels of statistical significance. A simple and intuitive approach for converting genetic data to a predictive measure of disease susceptibility is to aggregate the effects of these loci into a single measure, the genetic risk score. Here, we describe some common methods and software packages for calculating genetic risk scores and polygenic risk scores, with focus on studies of common complex diseases. We review the basic information needed, as well as important considerations for constructing genetic risk scores, including specific requirements for phenotypic and genetic data, and limitations in their application. © 2019 by John Wiley & Sons, Inc.

Indexed as

SoftwareDiseaseGenetic MarkersGenetic Predisposition to DiseaseGenotypeHumansMultifactorial InheritancePhenotypeRisk FactorsGenetic MarkersAUCcomplex diseasescomplex traitsdisease predictiongenetic risk scorepolygenic risk score

Identifiers

PMID31765077
PMCPMC6941594

What OpenQuestion holds

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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.