Ontology highlight
ABSTRACT:
SUBMITTER: Brandt M
PROVIDER: S-EPMC7488413 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Brandt Margot M Gokden Alper A Ziosi Marcello M Lappalainen Tuuli T
Genome medicine 20200911 1
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 significant effects in the expected direction (in 60% of variants), demonstrating the abilit ...[more]