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Scripps Wellderly Genome Resource now available to researchers
Date:3/6/2014

best-case scenario for the presence of a DNA variant in a population," said Erick Scott, M.D., a clinical scholar at STSI and doctoral student in the labs of Ali Torkamani and Peter G. Schultz at The Scripps Research Institute in San Diego. Scott led the effort to analyze the Wellderly Study data.

Researchers who tap into the Scripps dataset can use another tool developed by STSI called SG ADVISER. The free online search engine, located at genomics.scripps.edu/ADVISER/, delivers rich amounts of information about gene variants, including whether the searched-for variant appears in the Wellderly population and how frequently it shows up in that group.

The first published use of the SWGR came in January when a group of U.S. and U.K. researchers linked rare mutations of a certain gene to a twofold increase in the risk of developing late-onset Alzheimer's. The Scripps dataset served as a control for comparing members of 14 families in which the disease was common with a group lacking the illness.

The SWGR also has been used by STSI researchers who are studying the DNA of people with mysterious, or idiopathic, diseases that have defied more conventional diagnosis and treatment. The researchers are searching for rare genetic mutations that are related to the puzzling conditions.

"The SWGR will become more robust with time," said Ali Torkamani, director of genome informatics at STSI and an assistant professor of integrative, structural and computational biology at The Scripps Research Institute.

"As more DNA sequences from Wellderly Study participants are completed, their genomic data will be added to the Scripps Wellderly Genome Resource to strengthen the power of this innovative research tool," he said.


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Contact: Keith Darcé
darce.keith@scrippshealth.org
858-678-7121
Scripps Health
Source:Eurekalert  

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