NHLBI has funded the Resequencing and Genotyping (RS&G) Service to make DNA resequencing and
genotyping services free to investigators seeking to identify targeted phenotype associations
for heart, lung, and blood diseases and disorders. These services are not limited to
researchers already funded by NHLBI, but applicants will have to provide evidence of
sufficient resources to fully utilize/share the data generated by the service.
- The RS&G Service accepts investigations using human and non-human DNA. Priority is given to researchers investigating the genetic components involved in the cause, variable outcome, and progression of heart, lung, and blood diseases and disorders.
- Applications are submitted online through this Web site.
- Investigators must have high-quality DNA samples prepared and available for resequencing or genotyping at the time of application submission. In addition, IRB approval must be documented at the time of application. Include certification for submission to dbGaP. If dbGaP certification is not available, this should be explained in the application.
- Applications for the RS&G Service are evaluated by an independent Evaluation Panel composed of expert scientists from outside the RS&G Program. The Evaluation Panel reviews applications submitted by investigators for resequencing and genotyping services and makes recommendations to NHLBI, in rank order, regarding studies to be selected to use the services. The objective of the review is to ensure that services are provided to the most meritorious, high caliber genetic studies focused on finding genes associated with a disease or trait of interest. The review considers each request regarding programmatic priority, feasibility, adequacy of the size and power, and data sharing plan.
- Final approval and prioritization of applications for the RS&G Service are completed by the NHLBI.
- If your application is declined, you may revise it and resubmit it for evaluation only one additional time.
RS&G Service Data Release Policies
The NHLBI DNA RS&G Service has the following data release policies:
- The RS&G Service Laboratory Center will release allele frequency data for each project, along with the number of samples and broad sample identifiers (e.g., continent of origin), to dbSNP within one month after releasing the data to the project investigator. This typically results in a delay of three months or more before publication in dbSNP.
- For projects where there may be difficulties reporting allele frequency information (e.g., existing IRB approvals may not authorize release of summary information), the investigator and the NHLBI staff will establish a course of action to allow allele frequency information to be reported.
- It is expected that both genotype and phenotype data will be released through dbGaP, or into widely used repositories specific to the model organism. If human data is not dbGaP certified, an exception will need to be negotiated with NHLBI staff. The RS&G Service Laboratory Center will provide files for uploading to dbGaP, but the investigator is responsible for the dbGaP data release.
Exceptions to the RS&G Service Data Release Policies
It is the policy of the NHLBI DNA RS&G Service to submit variation data to dbSNP after a minimum delay of one month from the date that the variation data has been delivered to the investigator. If a longer minimum delay is necessary, please submit a request specifying the revised timeframe and providing complete details to justify the extension beyond one month (e.g., if the DNA samples to be used have been obtained from another project that has conflicting formal written guidelines). It is expected that investigators will submit the new data along with the available phenotypes to dbGaP or into widely used repositories specific to your model organism. Any exceptions will need to be obtained from NHLBI staff during the application process.
RS&G Service Acknowledgment Statement
- If your application is approved and you receive services, we ask that any publications resulting from the data you receive contain an acknowledgment as follows:
(Resequencing or Genotyping) services were provided through the RS&G Service by the Northwest Genomics Center at the University of Washington, Department of Genome Sciences, under U.S. Federal Government contract number HHSN268201100037C from the National Heart, Lung, and Blood Institute.
- If you are unable to comply with the acknowledgment policy then you must provide a declination reason at the time of application.
Modifying Approved Projects
The project is approved as defined in the application, contingent upon implementation of any reviewer recommendations. Minor technical modifications may be necessary to facilitate implementation by the Laboratory Center. Any other changes in the project, such as alterations in scope, target regions or number of samples, will necessitate submission of a revised application subject to review during the next application cycle (i.e., in approximately three months). As specified in the program requirements and stipulated in the application materials, please ensure at this time that the samples needed to carry out this project are available and have passed recent quality checks. Any delay in the delivery of samples to the Laboratory Center and/or sample quality testing failures may lead to lower prioritization or termination of the project.