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Dissolving the Missing Heritability Problem

Published online by Cambridge University Press:  01 January 2022


Heritability estimates obtained from genome-wide association studies (GWAS) are much lower than those of traditional quantitative methods. This phenomenon has been called the “missing heritability problem.” By analyzing and comparing GWAS and traditional quantitative methods, we first show that the estimates obtained from the latter involve some terms other than additive genetic variance, while the estimates from the former do not. Second, GWAS, when used to estimate heritability, do not take into account additive epigenetic factors transmitted across generations, while traditional quantitative methods do. Given these two points we show that the missing heritability problem can largely be dissolved.

Philosophy of Science , Volume 84 , Issue 5 , December 2017 , pp. 1055 - 1067
Copyright © The Philosophy of Science Association

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PB’s research was supported under the Australian Research Council’s Discovery Projects funding scheme (project DP150102875). QL’s research was supported by a grant from the Ministry of Education of China (13JDZ004). Both authors contributed equally.


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