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Article

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

Genome medicine - 11 Sept 2020

Brandt Margot, Gokden Alper, Ziosi Marcello, Lappalainen Tuuli

Abstract excerpt

We present an assay to experimentally test the regulatory effects of genetic variants within transcripts using CRISPR/Cas9 followed by targeted sequencing. We applied the assay to 32 premature stop-gained variants across the genome and in two Mendelian disease genes, 33 putative causal variants of eQTLs, and 62 control variants in HEK293T cells, replicating a subset of variants in HeLa cells. We detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32912286
DOI: 10.1186/s13073-020-00777-8
PMCID: PMC7488413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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