Luke Sharp

Jul 29, 2024 | nature.com | Caroline Wright |Luke Sharp |Leigh Jackson |Anna Murray |James S. Ware |Heidi Rehm | +1 more

AbstractPenetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a ‘phenotype-first’ approach.