Article
Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features.
Human mutation - 1 Jun 2021
Lu Yu, Wu Yiming, Liu Yuan, Li Yizhou, Jing Runyu, Li Menglong
Abstract excerpt
One of the greatest challenges in human genetics is deciphering the link between functional variants in noncoding sequences and the pathophysiology of complex diseases. To address this issue, many methods have been developed to sort functional single-nucleotide variants (SNVs) for neutral SNVs in noncoding regions. In this study, we integrated well-established features and commonly used datasets and merged them...
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