Publications by authors named "Timo Tonis Sikka"
Article Synopsis
- The genotype-first approach effectively identifies individuals with high-risk pathogenic variants in BRCA1/2 genes linked to familial breast and ovarian cancer.
- Participants from the Estonian biobank were supportive of receiving clinically significant genetic findings, and a significant number responded positively to the return of these results.
- The study found that many participants appreciated the counseling and some opted for risk-reducing surgeries, highlighting the clinical utility of this genetic testing model.
Effector functions of immunoglobulin G (IgG) are regulated by the composition of a glycan moiety, thus affecting activity of the immune system. Aberrant glycosylation of IgG has been observed in many diseases, but little is understood about the underlying mechanisms. We performed a genome-wide association study of IgG N-glycosylation ( = 8090) and, using a data-driven network approach, suggested how associated loci form a functional network.
View Article and Find Full Text PDFIn many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.
View Article and Find Full Text PDF