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Ascertainment

Definition
AI-generated

How individuals or families enter a study (e.g. via affected probands) can bias apparent inheritance patterns and allele frequencies.

Topics
Core genetics
Related
Case Control Study Participation Bias Mendelian Disease

Why it matters in GWAS

These concepts shape how we expect variants to act (penetrance, heterogeneity, threshold models) and how GWAS signals should be interpreted alongside family-based evidence.

Example usage

"Because families were recruited through pediatric neurology clinics, we modeled ascertainment effects before interpreting segregation patterns."

Case Control Study Participation Bias Mendelian Disease
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.
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