Massively parallel saturation genome editing of an essential mitochondrial targeting sequence (TileSeq)

ABSTRACT: We employed saturation genome editing (SGE) to assess the functional consequences of synonymous, missense, and nonsense variants across KARS1 exon 2. Deep DNA sequencing of fixed-amplicon PCR products targeting the endogenous KARS1 Exon 2 locus was used to determine variant frequencies as part of a larger study to identify a set of reproducible enrichment scores indicating effects of variants on KARS1 function.

ORGANISM(S): Homo sapiens

PROVIDER: GSE232150 | GEO | 2024/05/31

REPOSITORIES: GEO