---
res:
  bibo_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 studies of
    low-prevalence disease. In a simulation study, we find that our derived expression
    yields lower mean square error (MSE) and is less sensitive to prevalence misspecification
    as compared to previous transformations for diseases with  =< 2% population prevalence
    and LSH of =< 0.45, especially if the biobank sample prevalence is less than that
    of the wider population. Applying our expression to 13 diagnostic outcomes of  =<
    3% prevalence in the UK Biobank study revealed important differences in LSH obtained
    from the different theoretical expressions that impact the conclusions made when
    comparing LSH across disease outcomes. This demonstrates the importance of careful
    consideration for estimation and prediction of low-prevalence disease outcomes
    and facilitates improved inference of the underlying genetic basis of  =< 2% population
    prevalence diseases, especially where biobank sample ascertainment results in
    a healthier sample population.@eng
  bibo_authorlist:
  - foaf_Person:
      foaf_givenName: Sven E.
      foaf_name: Ojavee, Sven E.
      foaf_surname: Ojavee
  - foaf_Person:
      foaf_givenName: Zoltan
      foaf_name: Kutalik, Zoltan
      foaf_surname: Kutalik
  - foaf_Person:
      foaf_givenName: Matthew Richard
      foaf_name: Robinson, Matthew Richard
      foaf_surname: Robinson
      foaf_workInfoHomepage: http://www.librecat.org/personId=E5D42276-F5DA-11E9-8E24-6303E6697425
    orcid: 0000-0001-8982-8813
  bibo_doi: 10.1016/j.ajhg.2022.09.011
  bibo_issue: '11'
  bibo_volume: 109
  dct_date: 2022^xs_gYear
  dct_identifier:
  - UT:000898683500006
  dct_isPartOf:
  - http://id.crossref.org/issn/0002-9297
  dct_language: eng
  dct_publisher: Elsevier@
  dct_subject:
  - Genetics (clinical)
  - Genetics
  dct_title: Liability-scale heritability estimation for biobank studies of low-prevalence
    disease@
  fabio_hasPubmedId: '36265482'
...