Ojavee SE

ORCID: 0000-0002-7433-7787 · 3 papers in corpus
2024
Rare copy-number variants as modulators of common disease susceptibility.
Genome medicine ·doi:10.1186/s13073-023-01265-5

BackgroundCopy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.MethodsAssessing four modes of CNV a…

2023
Copy-number variants as modulators of common disease susceptibility
·doi:10.1101/2023.07.31.23293408

ABSTRACT Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic syndromes but their impact on health later in life in the general population remains poorly described. Methods Assessing four modes of…

2022
Liability-scale heritability estimation for biobank studies of low-prevalence disease.
American journal of human genetics ·doi:10.1016/j.ajhg.2022.09.011

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 liabili…