Disease-associated human genetic variation through the lens of precursor and mature RNA structure.

Abstract excerpt

Disease-associated variants (DAVs) are commonly considered either through a genomic lens that describes variant function at the DNA level, or at the protein function level if the variant is translated. Although the genomic and proteomic effects of variation are well-characterized, genetic variants disrupting post-transcriptional regulation is another mechanism of disease that remains understudied. Specific RNA...

Topics

• 3' Untranslated Regions
• Genetic Variation
• Humans
• Nucleotides
• Proteomics
• RNA, Messenger
• RNA-Binding Proteins