MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.

ABSTRACT: The recent identification of noncoding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagnosed cases. Several computational methods have been developed to predict the functional impact of noncoding variants, but they exhibit only partial concordance and are not integrated with functional annotation resources, making the interpretation of these variants still challenging. MicroRNAs (miRNAs) are small noncoding RNA molecules that act as fine regulators of gene expression and play crucial functions in several biological processes, such as cell proliferation and differentiation. An increasing number of studies demonstrate a significant impact of miRNA single nucleotide variants (SNVs) both in Mendelian diseases and complex traits. To p

SUBMITTER: Giovannetti A 

PROVIDER: S-EPMC9546175 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature