Portal to make largest Alzheimer's genetic database available to researchers

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Researchers will soon have access to the largest genetic database on Alzheimer’s disease through a new portal designed to make large-scale DNA sequence data available to qualified investigators.

The portal for the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is currently undergoing beta testing involving a small number of investigators, with broader access slated to begin next month.

Whole-genome sequence data for 5,000 subjects, including Alzheimer's cases and cognitively normal controls, are being made available to researchers. An additional 20,000 subjects will become available next year to the research community as part of the Alzheimer's Disease Sequencing Project, a National Institute on Aging initiative to fully sequence the DNA of as many as 25,000 individuals.

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The data will be processed by the Genomic Center for Alzheimer's Disease (GCAD) at the University of Pennsylvania‘s Perelman School of Medicine and all sequence and associated phenotype data will be harmonized to ensure investigators can immediately begin analyses.

Both NIAGADS and GCAD are managed under the Penn Neurodegeneration Genomics Center, which are directed by Gerard Schellenberg, a professor of pathology and laboratory medicine, and Li-San Wang, an associate professor.

“There’s a need for the ability to share very large files,” says Schellenberg, who notes that the datasets are not available through other sites, including the previously used repository called the database of Genotypes and Phenotypes (dbGaP), which no longer accepts certain large sequence files. “This large scale sequencing project has stepped up to provide a cloud-based alternative to depositing data in dbGaP for sharing large DNA sequence files.”

“It’s not always feasible for researchers to download all the data, so we’re deploying this in the cloud so investigators can do analysis directly in the cloud without having to download the data,” adds Wang. “Making these data available is particularly important since there is currently no treatment available that prevents or alters the course of this common and devastating disease.”

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