Analysis of familial aggregation studies with complex ascertainment schemes

Abigail G. Matthews, Dianne M. Finkelstein, Rebecca A. Betensky

Research output: Contribution to journalArticlepeer-review


Familial aggregation studies are a common first step in the identification of genetic determinants of disease. If aggregation is found, more refined genetic studies may be undertaken. Complex ascertainment schemes are frequently employed to ensure that the sample contains a sufficient number of families with multiple affected members, as required to detect aggregation. For example, an eligibility criterion for a family might be that both the mother and daughter have disease. Adjustments must be made for ascertainment to avoid bias. We propose adjusting for complex ascertainment schemes through a joint model for the outcomes of disease and ascertainment. This approach improves upon previous simplifying assumptions regarding the ascertainment process.

Original languageEnglish (US)
Pages (from-to)5076-5092
Number of pages17
JournalStatistics in Medicine
Issue number24
StatePublished - Dec 30 2008


  • Ascertainment bias
  • Familial aggregation
  • Quadratic exponential model

ASJC Scopus subject areas

  • Epidemiology
  • Statistics and Probability


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