Article

Improved detection of genetic effects on promoter usage with augmented transcript annotations

2022-07-14

Abstract excerpt

Disease-associated non-coding variants can modulate their target genes by disrupting multiple mechanisms, including regulating total gene expression level, splicing, alternative polyadenylation or promoter usage. Quantifying promoter usage from standard RNA sequencing data is challenging due to incomplete reference transcriptome annotations and low read coverage observed at the ends of transcripts. We previously d...

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Literature Corpus work: 025ccb5f-ffc5-5dee-add0-572dc18300c3
DOI: 10.1101/2022.07.12.499800

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