Open AccessThe impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases
Author(s) -
A. Cecile J.W. Janssens,
Ramal Moonesinghe,
Quahne Yang,
Ewout W. Steyerberg,
Cornelia M. van Duijn,
Muin J. Khoury
Publication year - 2007
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1097/gim.0b013e31812eece0
Subject(s) - receiver operating characteristic , genotype , odds ratio , odds , population , genotype frequency , area under the curve , medicine , genetics , allele frequency , biology , logistic regression , gene , environmental health
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.
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