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Locus heterogeneity

Definition
AI-generated

Different genes can cause the same phenotype; variants at distinct loci yield similar clinical presentations.

Topics
Core genetics
Related
Genetic Heterogeneity Mendelian Disease Pleiotropy

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

"A replication step checks whether Locus heterogeneity assumptions remain stable across cohorts."

Genetic Heterogeneity Mendelian Disease Pleiotropy
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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