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Principal Investigator  
Principal Investigator's Name: Elise Blaese
Institution: IBM Research
Department: Computational Biology Center
Country:
Proposed Analysis: Watson Alzheimer’s Genetic Experiment (WAGE) project is funded by the NIA as part of the Genome Center for Alzheimer’s Disease (GCAD). To accomplish the following specific aims data sources such as ADNI will be used: 1. Generate a Tiling representation of all WGS: (a) Produce compressed files (“Tiles”) for whole-genomes for ~1,000 AD cases and up to 10,000 cognitively normal controls; (b) Compare cases and controls for patterns/regions of interest; (c) Add other genetic data sets (WGS, WES, genotyping array etc.); (d) Re-annotate tile sets based on input from IBM-R or AD Geneticists; 2. Identify patterns/regions of interest using Cognitive algorithms: (a) Compare cases and controls for patterns of interest with Mutual INformation based Transduction Feature Selection (MINT) and augmented GWAS; (b) Iterate with Curoverse and AD Geneticists to improve patterns/regions of interest; (c) Add other tiled data sets, annotations and/or phenotypes; (d) try other (more experimental) algorithms to find patterns/regions of interest; 3. Replicate findings: (a) Confirm positive controls present in Curoverse and IBM-R patterns/regions of interest; (b) Test patterns/regions of interest in large imputed datasets; (c) Iterate with Curoverse and IBM-R to improve patterns/regions of interest; 4. Annotate regions of interest: (a) Annotate regions/patterns of interest with histone markers, methylation, DNAse sensitivity promoter/gene structure, etc.; (b) Mine literature for information on features in regions of interest.
Additional Investigators  
Investigator's Name: Dan He
Proposed Analysis: Watson Alzheimer’s Genetic Experiment (WAGE) project is funded by the NIA as part of the Genome Center for Alzheimer’s Disease (GCAD). To accomplish the following specific aims data sources such as ADNI will be used: 1. Generate a Tiling representation of all WGS: (a) Produce compressed files (“Tiles”) for whole-genomes for ~1,000 AD cases and up to 10,000 cognitively normal controls; (b) Compare cases and controls for patterns/regions of interest; (c) Add other genetic data sets (WGS, WES, genotyping array etc.); (d) Re-annotate tile sets based on input from IBM-R or AD Geneticists; 2. Identify patterns/regions of interest using Cognitive algorithms: (a) Compare cases and controls for patterns of interest with Mutual INformation based Transduction Feature Selection (MINT) and augmented GWAS; (b) Iterate with Curoverse and AD Geneticists to improve patterns/regions of interest; (c) Add other tiled data sets, annotations and/or phenotypes; (d) try other (more experimental) algorithms to find patterns/regions of interest; 3. Replicate findings: (a) Confirm positive controls present in Curoverse and IBM-R patterns/regions of interest; (b) Test patterns/regions of interest in large imputed datasets; (c) Iterate with Curoverse and IBM-R to improve patterns/regions of interest; 4. Annotate regions of interest: (a) Annotate regions/patterns of interest with histone markers, methylation, DNAse sensitivity promoter/gene structure, etc.; (b) Mine literature for information on features in regions of interest.