Article

In silico generation and augmentation of regulatory variants from massively parallel reporter assay using conditional variational autoencoder

2024-06-29

Abstract excerpt

Predicting the functional consequences of genetic variants in non-coding regions is a challenging problem. Massively parallel reporter assays (MPRAs), which are an in vitro high-throughput method, can simultaneously test thousands of variants by evaluating the existence of allele specific regulatory activity. Nevertheless, the identified labelled variants by MPRAs, which shows differential allelic regulatory effe...

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Literature Corpus work: 0f3be4c7-ccbe-50c9-a9d8-c8a9fdef4f85
DOI: 10.1101/2024.06.25.600715

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