Whole-Exome Sequencing of Familial Amyotrophic Lateral Sclerosis. Homo sapiens

Amyotrophic Lateral Sclerosis (ALS) is a terminal late onset neurodegenerative disease characterized by the degeneration of both the upper and lower motor neurons. A family history of ALS, familial ALS (FALS), is present in approximately 10% of cases. No family history of ALS is present in the majority of cases, sporadic ALS (SALS). In order to identify genes contributing to ALS, whole-exome sequencing analysis was performed on a cohort of 1, 022 index FALS cases and 7, 315 controls. Submitted here are the whole-exomes from the US FALS cohort.