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The emerging field of polygenic risk scores and perspective for use in clinical care.

Human molecular genetics - 20 Oct 2020

Yanes Tatiane, McInerney-Leo Aideen M, Law Matthew H, Cummings Shelly

Abstract excerpt

Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic diseases. Until recently, there were no genetic testing options available for multifactorial complex diseases like heart disease, diabetes and cancer. Genome-wide association studies (GWAS) have been invaluable in identifying single-nucleotide polymorphisms (SNPs) associated with increased or decreased risk for hundreds of...

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PMID: 32620971
DOI: 10.1093/hmg/ddaa136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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