Article

Parameters tuning boosts hyperSMURF predictions of rare deleterious non-coding genetic variants

2017-08-24

Abstract excerpt

The regulatory code that determines whether and how a given genetic variant affects the function of a regulatory element remains poorly understood for most classes of regulatory variation. Indeed the large majority of bioinformatics tools have been developed to predict the pathogenicity of genetic variants in coding sequences or conserved splice sites. Computational algorithms for the prediction of non-coding dele...

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Literature Corpus work: a8798115-bb5f-5d6c-bed1-e838bb59ec12
DOI: 10.7287/peerj.preprints.3185v1

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