Articles with "prioritization functional" as a keyword



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

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Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24399

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,… read more here.

Keywords: annotation tools; dbmir prioritization; mirlog dbmir; prioritization functional ... See more keywords
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Prioritization and functional assessment of noncoding variants associated with complex diseases

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Published in 2018 at "Genome Medicine"

DOI: 10.1186/s13073-018-0565-y

Abstract: Unraveling functional noncoding variants associated with complex diseases is still a great challenge. We present a novel algorithm, Prioritization And Functional Assessment (PAFA), that prioritizes and assesses the functionality of genetic variants by introducing population… read more here.

Keywords: noncoding variants; associated complex; functional assessment; complex diseases ... See more keywords