Article

Deciphering the Impact of Genetic Variation on Human Polyadenylation

2022-05-10

Abstract excerpt

Genetic variants that disrupt polyadenylation can cause or contribute to genetic disorders. Yet, due to the complex cis-regulation of polyadenylation, variant interpretation remains challenging. Here, we introduce a residual neural network model, APARENT2 , that can infer 3’-cleavage and polyadenylation from DNA sequence more accurately than any previous model. This model generalizes to the case of alternative po...

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Literature Corpus work: 02685cc5-df55-5c78-b807-0318adaefc0c
DOI: 10.1101/2022.05.09.491198

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