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Article

The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2007

Janssens A Cecile J W, Moonesinghe Ramal, Yang Quahne, Steyerberg Ewout W, van Duijn Cornelia M, Khoury Muin J

Abstract excerpt

PURPOSE: Single genetic variants in multifactorial disorders typically have small effects, so major increases in disease risk are expected only from the simultaneous exposure to multiple risk genotypes. We investigated the impact of genotype frequencies on the clinical discriminative accuracy for the simultaneous testing of 40 independent susceptibility genetic variants. METHODS: In separate simulation scenarios,...

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Identifiers

PMID: 17700391
DOI: 10.1097/gim.0b013e31812eece0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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