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:<p>Free asparagine content is a key factor in acrylamide formation in wheat derivatives after high temperature processing. Therefore, the control of free asparagine levels is of interest in crop and food sciences. Our study aims to explore the natural variation in durum wheat to identify candidate genes controlling this trait. Durum wheat genotypes were selected from an international germplasm collection and sown in an experimental field in Italy for three years. Free asparagine content was measured on whole grain using an enzymatic assay. A genome-wide association study was performed, and six associated quantitative trait nucleotides were identified. Moreover, the whole grain metabolome of the durum wheat genotypes was investigated to identify metabolic pathways associated to free asparagine accumulation. Specific enriched pathways involved in amino acids metabolism were detected and four candidate genes were identified. This study paved the way to characterize the genetic determinants of free asparagine accumulation in wheat grain.</p>
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.
