Genomics

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Identification of ALS Associated Genes Using Whole Genome Sequencing


ABSTRACT: The Specific Aims of this proposal are: (1.) Discovery of Novel Genetic Elements Associated with Familial 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... (for more see dbGaP study page.)

PROVIDER: phs001585 | dbGaP |

REPOSITORIES: dbGaP

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