GenomicsNucleic Acids ResearchPeer-reviewed
Whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants
Shijie Zhang, Yukun He, Huanhuan Liu…·Mulin Jun Li
This paper develops regBase, a database of whole genome base-wise aggregations of regulatory variant predictions, and three composite models to score functional, pathogenic, and cancer driver variants, showing superior performance in fine-mapping causal variants.
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