Article

DeepPerVar: a multimodal deep learning framework for functional interpretation of genetic variants in personal genome

2022-04-11

Abstract excerpt

<h4>Motivation</h4> Understanding the functional consequence of genetic variants, especially the noncoding ones, is important but particularly challenging. Genome-wide association studies 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 e...

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Literature Corpus work: c59d138a-32a0-5e65-ac9c-8ad5908003b2
DOI: 10.1101/2022.04.10.487809

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