The effect of ascertainment on penetrance estimates for rare variants: implications for establishing pathogenicity and for genetic counselling https://www.biorxiv.org/content/10.1101/2023.02.17.528910v1?med=mas
The effect of ascertainment on penetrance estimates for rare variants: implications for establishing pathogenicity and for genetic counselling https://www.biorxiv.org/content/10.1101/2023.02.17.528910v1?med=mas