Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

Abstract excerpt

Following the recent success of genome-wide association studies in uncovering disease-associated genetic variants, the next challenge is to understand how these variants affect downstream pathways. The most proximal trait to a disease-associated variant, most commonly a single nucleotide polymorphism (SNP), is differential gene expression due to the cis effect of SNP alleles on transcription, translation, and/or...

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