The genetic contribution to a number of neurological disorders is thought to be complex in nature, disease risk being driven by a combination of risk alleles commonly present in the human genome. Recently the completion of stages I and II of the international Haplotype Map project and the availability of high-plex SNP assays has made genome wide assay of common genetic variability a realistic endeavor. We are applying genome wide association analysis using 500,000SNPs to a Parkinsons disease cohort from the NINDS funded neurogenetics repository. We have developed and implemented the necessary hardware and software infrastructure to store and manipulate the 2 billion datapoints associated with these experiments. The data the experiments analysing Parkinsons disease are complete and have recently been published; we are now nearing completion of the second stage of this work, analysing 1000 Parkinsons disease cases and 1000 neurologically normal controls, these data will be posted at dbGAP for mining an augmentation by interested researchers.
| Juge, Pierre-Antoine; Lee, Joyce S; Ebstein, Esther et al. (2018) MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. N Engl J Med 379:2209-2219 |
| Chen, Xi; Scholz, Sonja W (2018) Identification of new ?-synuclein regulator by nontraditional drug development pipeline. Mov Disord 33:402 |
| Nicolas, Aude (see original citation for additional authors) (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron 97:1268-1283.e6 |
| Burciu, Roxana G; Seidler, Rachael D; Shukla, Priyank et al. (2018) Multimodal neuroimaging and behavioral assessment of ?-synuclein polymorphism rs356219 in older adults. Neurobiol Aging 66:32-39 |
| Blauwendraat, Cornelis; Kia, Demis A; Pihlstrøm, Lasse et al. (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiol Aging 64:159.e5-159.e8 |
| Agrawal, A; Chou, Y-L; Carey, C E et al. (2018) Genome-wide association study identifies a novel locus for cannabis dependence. Mol Psychiatry 23:1293-1302 |
| Noyce, Alastair J; Kia, Demis A; Hemani, Gibran et al. (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Med 14:e1002314 |
| Murphy, Natalie A; Arthur, Karissa C; Tienari, Pentti J et al. (2017) Age-related penetrance of the C9orf72 repeat expansion. Sci Rep 7:2116 |
| Jansen, Iris E; Gibbs, J Raphael; Nalls, Mike A et al. (2017) Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiol Aging 59:220.e11-220.e18 |
| Blauwendraat, Cornelis; Bandrés-Ciga, Sara; Singleton, Andrew B (2017) Predicting progression in patients with Parkinson's disease. Lancet Neurol 16:860-862 |
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