Biological relevance of computationally predicted pathogenicity of noncoding variants

Computational prediction of the phenotypic propensities of noncoding single nucleotide variants typically combines annotation of genomic, functional and evolutionary attributes into a single score. Here, we evaluate if the claimed excellent accuracies of these predictions translate into high rates o...

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Bibliographic Details
Published in:Nat Commun
Main Authors: Liu, Li, Sanderford, Maxwell D., Patel, Ravi, Chandrashekar, Pramod, Gibson, Greg, Kumar, Sudhir
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2019
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6338804/
https://ncbi.nlm.nih.gov/pubmed/30659175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-08270-y
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