Evidence map›Paper›PMID 32376789›Full record

ReviewJournal of medical genetics2020

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.

Chantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing 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

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

  1. Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
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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

3 authors.

Chantal Babb de VilliersPHG Foundation, University of Cambridge, Cambridge, Cambridgeshire, UK chantal.babbdevilliers@phgfoundation.org.ORCID 0000-0003-1334-1819
Mark KroesePHG Foundation, University of Cambridge, Cambridge, Cambridgeshire, UK.
Sowmiya MoorthiePHG Foundation, University of Cambridge, Cambridge, Cambridgeshire, UK.

Funding

Cancer Research UK 20861
6 · The paper itself

Abstract

The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated with several proposed methods of generating polygenic scores. This has been driven by the availability of larger data sets, primarily from genome-wide association studies and concomitant developments in statistical methodologies. Here we provide an overview of the methodological aspects of polygenic model construction. In addition, we consider the state of the field and implications for potential applications of polygenic scores for risk estimation within healthcare.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyDelivery of Health CareGenomicsHumansMultifactorial InheritancePolymorphism, Single Nucleotideclinical geneticsgenetic epidemiologygenome-widegetting research into practiceprevention

Identifiers

PMID32376789
PMCPMC7591711

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.