Corticobasal degeneration (CBD) is a rare neurodegenerative disorder of unknown etiology. The genetics of CBD are largely unknown. To identify genes and rare variants that cause or increase risk for CBD, this study generated whole exome sequence (WES) data for 384 autopsy-documented CBD cases. The Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia performed library preparation and WES using the SureSelect XT automated library preparation, the v5 Agilent SureSelect kit, and sequencing run performed as Paired End, 2×125 on the Hiseq2500. WES data was processed using the Alzheimer’s Disease Sequencing Project (ADSP) protocol for quality control procedures and for generating a project level variant call format file (VCF).
Gerard D. Schellenberg, Ph.D. and collaborators Dennis W. Dickson, M.D., and John Hardy, Ph.D.
Funded by CBD Solutions.
CBD Solutions funded the WES, data processing, and analysis. Assembled samples are from University College London (John Hardy), Mayo Clinic Jacksonville (Dennis Dickson), University of Pennsylvania (John Trojanowski), Emory University (Marla Gearing), Johns Hopkins University (Alex Pantelyat), Indiana University (Bernadino Ghetti), New York Brain Bank (Jean Paul Vonsattel), McClean Brain Bank (Elaine Benes), University of Texas Southwestern (Charles White), University of California Los Angeles (William Tourtelloute), and European collaborators at University Munich and Neurobiobank Munich (Gunter Hoglinger, Ulrich Muller, Hans Kretzschmr), Newcastle University, University of Barcelona (Charles Gaig), MRC London Brain Bank, Australian Brain Bank, and the University of Madrid (Alberto Rábano Gutiérrez).