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Article

Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2015

Kong Sek Won, Lee In-Hee, Leshchiner Ignaty, Krier Joel, Kraft Peter, Rehm Heidi L, Green Robert C, Kohane Isaac S, MacRae Calum A

Abstract excerpt

PURPOSE: Disease-causing mutations and pharmacogenomic variants are of primary interest for clinical whole-genome sequencing. However, estimating genetic liability for common complex diseases using established risk alleles might one day prove clinically useful. METHODS: We compared polygenic scoring methods using a case-control data set with independently discovered risk alleles in the MedSeq Project. For eight...

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Identifiers

PMID: 25341114
DOI: 10.1038/gim.2014.143
PMCID: PMC4547452

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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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