Identification of ALS associated genes using whole genome sequencing
|Study ID||Alternative Stable ID||Type|
The Specific Aims of this proposal are:
(1) Discovery of Novel Genetic Elements Associated with Familial Amyotrophic Lateral Sclerosis (ALS). Over 600 index familial ALS samples will be whole genome sequenced. Control samples will include a minimum of 7,500 whole genomes to be sequenced by the international Project Mine consortium. The genomes will be subject to rare variant and CNV analysis of coding and non-coding regions to identify novel genetic elements associated FALS.
(2) Validation / Characterization of Novel Genetic Elements Associated with Familial ALS. Top candidate genetic elements will be further evaluated by targeted sequencing of an independent replication cohort of >300 FALS and ~10,000 controls. Furthermore, we will examine the association of these genetic elements within a panel of up to 15,000 SALS cases. Lastly, we will prioritize variants present with FALS associated genes likely to have a functional impact through predictive software, allele frequency comparisons and testing proper segregation within affected family members.
(3) ... (Show More)