GeneticsbioRxivPreprint
Variant-specific Mendelian Risk Prediction Model
Eunchan Bae, Julie‐Alexia Dias, Theodore Huang…·Danielle Braun
The paper extends Mendelian risk prediction models to incorporate variant-specific penetrances, improving cancer risk predictions for BRCA1/2 pathogenic variants.
DOI 10.1101/2023.03.06.531363