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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,…
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Keywords:
annotation tools;
dbmir prioritization;
mirlog dbmir;
prioritization functional ... See more keywords
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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…
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Keywords:
noncoding variants;
associated complex;
functional assessment;
complex diseases ... See more keywords