NEW YORK (GenomeWeb News) – The Center for Inherited Disease Research (CIDR) is now offering new sequencing services for researchers funded by the National Institutes of Health, including whole exome and custom targeted sequencing, and methylation analyses services. It also is preparing to offer some small whole genome sequencing projects.
CIDR, which provides sequencing and genotyping services to NIH-funded investigators working to discover disease-related genes, added the new whole exome and custom targeted services to its portfolio at the beginning of the year, Camilla Day, executive director of CIDR's Board of Governors at the National Human Genome Research Institute, told GenomeWeb Daily News.
All of these services are provided "to qualifying NIH-funded projects at no cost to the investigator," Day said.
Established in 1996, the center is currently supported by a five-year, $115 million contract through NHGRI and is supported with additional funding by 14 other NIH institutes, including the National Cancer Institute.
"This is a high-throughput genotyping center," Day said. "So we're focused on projects that generally are larger than an individual investigator can carry out."
Day said the idea is to provide researchers with "a complete service" that includes statistical analyses services and assistance in designing the experiment.
"Investigators are assigned a project manager for each service – it's like a Cadillac level of service. They are led through the whole thing to maximize the quality of the data that's coming through and to enhance the study design, to help the investigator have the best study for them," Day added.
CIDR will provide next-generation sequencing services using Illumina's HiSeq 2000 instruments, enrichment using Agilent's SureSelect, and sample pretesting with the Illumina OmniExpress GWAS array.
For researchers conducting whole exome projects, the services include determination of SNP genotypes for sample tracking and variant call quality control, and identification of discrepancies, chromosomal anomalies, ethnic composition, first and second degree relatives, poor samples, and unexpected duplicate samples. The services also include study duplicates and HapMap controls, data completion of > 90 percent coverage at 10X and > 99 percent within targeted regions, and evaluation of data quality through the CIDRSeqSuite in-house pipeline.
The services will support only high coverage sequencing of individual samples, and will not accommodate analysis of pooled samples or low coverage studies at the current time.
"From the NIH's point of view, the advantage to CIDR is the high quality [data] that they produce and the help that the investigators get from the design of their project, all the way through to providing them with some preliminary data analyses. So, it's really a very complete type of service that facilitates the ability of clinical and [research] investigators to find genes involved in human health and disease," Day explained.
CIDR also receives support from the National Heart Lung and Blood Institute's Resequencing and Genotyping Program, multiple NHGRI-led Genome-Wide Association Study consortia, including the Gene Environment Association Studies (GENEVA), the electronic Medical Records and Genomics (eMERGE) project, and the Genomics and Randomized Trials Network (GARNET).