Mouse Models of Human Regulatory Variants and Their Limits

Enrichment; organism-level validation and its conservation problem.

Questions this Concept answers

Why does enhancer sequence turnover complicate mouse modeling of regulatory variants more than modeling of coding variants?

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Rapid and quantitative functional interrogation of human enhancer variant activity in live mice

This paper introduces dual-enSERT, a mouse transgenic reporter system for testing whether a human non-coding variant actually changes enhancer activity in a living animal. Reference and variant allel…