Charles J. Wolock

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

The paper improves pathogenic variant localization by using a hierarchical Bayesian model to estimate sub-regional intolerance, showing better performance in identifying ClinVar pathogenic variants and improving classification of de novo missense variants.

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.