Article

A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

2019-10-07

Abstract excerpt

We present an assay to experimentally test regulatory effects of genetic variants within transcripts using CRISPR/Cas9 followed by targeted sequencing. We applied the assay to 35 premature stop-gained variants across the genome and in two Mendelian disease genes, 33 putative causal variants of eQTLs and 65 control variants. We detected significant effects generally in the expected direction, demonstrating the abil...

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Literature Corpus work: f1e974d0-4fa1-5d55-a29b-cb2eecfd03c6
DOI: 10.1101/794081

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