Zhong Ren

This study finds that children with critical illness and non-diagnostic whole exome sequencing may still carry risk variants in genes not previously associated with disease.

ATAV provides a scalable platform for population-scale genomic analyses, enabling efficient variant storage, querying, and disease association studies with over 110,000 samples.

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