Biological relevance of computationally predicted pathogenicity of noncoding variants

Researchers can make use of a variety of computational tools to prioritize genetic variants and predict their pathogenicity. Here, the authors evaluate the performance of six of these tools in three typical biological tasks and find generally low concordance of predictions and experimental confirmat...

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Bibliographic Details
Main Authors: Li Liu, Maxwell D. Sanderford, Ravi Patel, Pramod Chandrashekar, Greg Gibson, Sudhir Kumar
Format: article
Language:EN
Published: Nature Portfolio 2019
Subjects:
Q
Online Access:https://doaj.org/article/8f40bef121824d3e8e8c9116ae4aae2d
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