Study

Identification of ALS associated genes using whole genome sequencing

Study ID Alternative Stable ID Type
phs001585 Case-Control

Study Description

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)

Archive Link Archive Accession
dbGaP phs001585

Who archives the data?

There are no publications available