Article

Allele Specific Expression Quality Control Fills Critical Gap in Transcriptome Assisted Rare Variant Interpretation

2025-06-02

Abstract excerpt

Allele-specific expression (ASE) captures the functional impact of genetic variation on transcription, offering a high-resolution view of cis-regulatory effects, but its quality can be diminished by technical, biological, and analysis artifacts. We introduce aseQC, a statistical framework that quantifies sample-level ASE quality in terms of the overall expected extra-binomial variation to exclude uncharacteristica...

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Literature Corpus work: d1a2bc7d-5732-50d1-8027-d1d292b985dc
DOI: 10.1101/2025.05.30.657086

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