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Regulatory variant databases | Genome annotation

The association between non-coding variants and human diseases has been of an increasing concern (Schaub et al., 2012; Albert and Kruglyak, 2015; Weischenfeldt et al., 2013), and variants that are associated with gene expression abundance have been rapidly identified and accumulated in recent years. Annotating the regulatory features of human variants has been a practical requirement in clinical and basic research (Schaub et al., 2012; Haider and Faisal, 2015); multiple approaches have been developed to allow the functional annotation of non-coding variants (Boyle et al., 2012; Ward and Kellis, 2012; Li et al., 2013; Ritchie et al., 2014). Source text: Guo et al., 2016.

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