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

Human mutation - 1 Sept 2022

Giovannetti Agnese, Bianco Salvatore Daniele, Traversa Alice, Panzironi Noemi, Bruselles Alessandro, Lazzari Sara, Liorni Niccolò, Tartaglia Marco, Carella Massimo, Pizzuti Antonio, Mazza Tommaso, Caputo Viviana

Abstract excerpt

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...

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PMID: 35583122
DOI: 10.1002/humu.24399
PMCID: PMC9546175

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