DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome.

Abstract excerpt

MOTIVATION: Understanding the functional consequence of genetic variants, especially the non-coding ones, is important but particularly challenging. Genome-wide association studies (GWAS) or quantitative trait locus analyses may be subject to limited statistical power and linkage disequilibrium, and thus are less optimal to pinpoint the causal variants. Moreover, most existing machine-learning approaches, which...

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