Project description:The identification of the genetic risk factors in patients with isolated cleft palate by whole genome sequencing analysis. Pathogenic or likely pathogenic variants were discovered in genes associated with CP (TBX22, COL2A1, FBN1, PCGF2, and KMT2D) in five patients; hence, rare disease variants were identified in 17% of patients with non-syndromic isolated CP. Our results are relevant to routine genetic counselling practice and genetic testing recommendations.
Project description:Minimal processing using chlorinated water washes is a common practice in the fresh produce industry to reduce the microbial load and bacterial pathogens attached on produce surfaces. To evaluate if E. coli O157:H7 strains with different phyllogenetic backgrounds are equally sensitive or display variable resistance to chlorine treatment, we studied the expression profile of Sakai and one 2006 spinach outbreak strain (TW 14359) in response to chlorine and hydrogen peroxide treatment.
