Illumina Unveils the First Industry-Hosted Controls Database for Genetic Research

Illumina, Inc., announced today the launch of iControlDB, the first industry-hosted genotyping control repository available for immediate use by researchers conducting case-control whole-genome association studies.

Case-control studies compare groups of patients who already have a disease (case) with a group of patients without the disease (control) to identify risk factors that may contribute to a medical condition. iControlDB provides a cost-efficient and quicker way for investigators to obtain control samples, allowing them to focus resources on genotyping disease samples. Combined with the database of Genotype and Phenotype (dbGaP), the scientific community can now access nearly 10,000 control samples that have been donated by researchers using Illumina's technology for single-nucleotide polymorphism (SNP) genotyping.

Peter Gregersen, M.D., is Director of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research, and has contributed more than 2,300 samples to iControlDB. Says Gregersen, "I think it is a unique milestone to have this many control samples freely available for case-control whole-genome association studies. In fact, it is a major gift to the scientific community, allowing many investigators to more quickly and efficiently conduct genetic mapping of human diseases, at a substantially reduced cost."

Leading genomics institutes, including the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research and The Children's Hospital of Philadelphia are the first to donate, in total, more than 6,000 control samples to the database. In addition to controls deposited from the International HapMap Project, the database contains samples from Caucasian, African, African American, African-American Mixed Descent, Chinese, Japanese, Korean, Native Hawaiian/Pacific Islander, Hispanic, Hispanic-Mixed Descent, Indian, and Vietnamese populations.

Researchers interested in obtaining data from iControlDB can do so via a downloadable software tool found via the article webpage. For investigators wanting to upload their control samples, they can do this in concordance with Health Insurance Portability and Accountability Act (HIPAA) guidelines, and with valid approval documentation, such as an institutional review board (IRB) approval, using Illumina's BeadStudio Data Analysis Software, version 3.1.

"This database will benefit the research community at large by providing investigators with an extensive set of control samples to validate their genetic studies," said Hakon Hakonarson, M.D., Ph.D., Director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, who supplied 4,000 control samples to the database. "Having this tool available allows researchers to significantly reduce both time and expenses in their genotyping studies. We hope this will facilitate collaborative interactions and advance our goal of building scientific foundations for developing successful treatments for childhood diseases."

All data uploaded to iControlDB are subject to Illumina's rigorous quality control process. To date, control samples uploaded to this database have an average call rate of 99.6 percent. By the end of 2007, samples in iControlDB are expected to reach more than 20,000.

"We created iControlDB because we want researchers to have immediate access to data that would otherwise be more time-consuming, cumbersome, and costly to obtain. We estimate that this database will provide at least a 50 percent cost savings, in addition to nearly halving the time necessary for processing samples," said Carsten Rosenow, Ph.D., DNA Analysis Senior Marketing Manager at Illumina. "The overall value for customers is that we are helping them find results faster, without compromising data quality, speeding their way to gene variation discovery."