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Why the Nearest Gene Is Not Automatically the Causal Gene

Papers name a locus after the gene the lead marker sits in or beside — here ABCC9 — and readers silently upgrade that label to a causal claim. This node makes the label/claim gap explicit before the ABCC9 biology arrives, so the later biology is read as a hypothesis under test rather than a finding.

Questions this Concept answers

Why does the gene nearest a lead marker often turn out not to be the causal gene?

jeremy Text

Nearest gene vs Causal gene

The entry distinguishes two things a post-GWAS locus label can mean. The nearest gene is a convenience label - whichever gene's transcription start site or body is closest to the lead variant - deter…