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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022

Lu Tianyuan, Forgetta Vincenzo, Richards John Brent, Greenwood Celia M T

Abstract excerpt

PURPOSE: The study aimed to evaluate whether polygenic risk scores could be helpful in addition to family history for triaging individuals to undergo deep-depth diagnostic sequencing for identifying monogenic causes of complex diseases. METHODS: Among 44,550 exome-sequenced European ancestry UK Biobank participants, we identified individuals with a clinically reported or computationally predicted monogenic...

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PMID: 35460399
DOI: 10.1016/j.gim.2022.03.022

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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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