Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021

Lu Tianyuan, Zhou Sirui, Wu Haoyu, Forgetta Vincenzo, Greenwood Celia M T, Richards J Brent

Abstract excerpt

PURPOSE: Identifying rare genetic causes of common diseases can improve diagnostic and treatment strategies, but incurs high costs. We tested whether individuals with common disease and low polygenic risk score (PRS) for that disease generated from less expensive genome-wide genotyping data are more likely to carry rare pathogenic variants. METHODS: We identified patients with one of five common complex diseases...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Predisposition to Disease
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multifactorial Inheritance

Share to Polymorphism, Single Nucleotide

Share to Risk Factors

Source

Identifiers

PMID: 33110269
DOI: 10.1038/s41436-020-01007-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening.PMID 33110269Read ↗

Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases.Semantic proximity Read ↗

Discovery and implications of polygenicity of common diseases.Semantic proximity Read ↗

Rare penetrant mutations confer severe risk of common diseasesSemantic proximity Read ↗

Rare penetrant mutations confer severe risk of common diseases.Semantic proximity Read ↗

Rare-variant risk scores complement common-variant polygenic scores for disease risk prediction and stratificationSemantic proximity Read ↗

Unique roles of rare variants in the genetics of complex diseases in humans.Semantic proximity Read ↗

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participantsSemantic proximity Read ↗

Missing genetic diversity impacts variant prioritisation for rare disordersSemantic proximity Read ↗

Polygenic architecture of rare coding variation across 394,783 exomes.Semantic proximity Read ↗

Inherited burden for disease predisposition in diverse populationsSemantic proximity Read ↗

Population-Based Penetrance of Deleterious Clinical Variants.Semantic proximity Read ↗

Rare variant contribution to human disease in 281,104 UK Biobank exomes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.