Project description:We describe the use of saturation genome editing to make and measure the effect of BRCA1 variants on protein function and splicing. We find the results accurately predict the clinical effects of variants.
Project description:We describe the use of saturation genome editing to measure the effects of CARD11 variants on protein function, splicing and lymphoma cell survival. We find the results to predict the clinical effects of the variants.
Project description: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.
Project description: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.
Project description:Large-cohort genome-wide association studies (GWAS) for alcohol use disorder (AUD) risk and drug treatment outcomes have identified significant genetic loci that are splicing quantitative trait loci (sQTLs) for the FNDC4 gene in multiple human brain regions. However, in spite of the fact that FNDC4 is highly expressed in the brain, its function and how it might contribute to AUD pathophysiology remain unknown. In the precent study, we characterized FNDC4 function using CRISPR/cas9 gene editing, the creation of human induced pluripotent stem cell (iPSC)-derived neural organoids and with single-nucleus RNA sequencing (snRNA-seq).
