Genetic & Genomic MedicinemedRxivPreprint
The spectrum of gene intolerance to variation: Insights from a rare disease cohort
Pilar Cacheiro, Gabriel Marengo, David U. Gorkin…·Damian P. Smedley
The paper analyzes gene intolerance to loss-of-function variation in a rare disease cohort to identify patterns in gene expression, sequence features, and disease associations across FUSIL categories.