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Article

A mammalian genomic signature shaped by single nucleotide variants regulates transcriptome integrity and diversity.

Genome biology - 29 Apr 2026

Yang Jian, Ogunsola Samuel, Wong Jason, Wang Aydan, Joehanes Roby, Levy Daniel, Sharma Shalini, Liu Chunyu, Xie Jiuyong

Abstract excerpt

BACKGROUND: Many functional features of mammalian genomic sequences remain poorly defined, especially how sequence motifs and genetic variants within non-coding regions (NCRs) regulate transcriptome integrity and diversity. We have shown that G-tracts unusually positioned between the polypyrimidine tract and 3' AG repress usage of the AG and are enriched at cryptic splice sites in cancer cells but their broader...

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PMID: 42057098
DOI: 10.1186/s13059-026-04094-y
PMCID: PMC13270564

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