Liability-scale heritability estimation for biobank studies of low-prevalence disease.

ABSTRACT: Theory for liability-scale models of the underlying genetic basis of complex disease provides an important way to interpret, compare, and understand results generated from biological studies. In particular, through estimation of the liability-scale heritability (LSH), liability models facilitate an understanding and comparison of the relative importance of genetic and environmental risk factors that shape different clinically important disease outcomes. Increasingly, large-scale biobank studies that link genetic information to electronic health records, containing hundreds of disease diagnosis indicators that mostly occur infrequently within the sample, are becoming available. Here, we propose an extension of the existing liability-scale model theory suitable for estimating LSH in biobank

SUBMITTER: Ojavee SE 

PROVIDER: S-EPMC9674948 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature