Skip Navigation

Application Guidelines

Guidelines
Data Release Policies
Exceptions to Data Release Policies
Acknowledgment Statement
Modifying Approved Projects

NHLBI has funded the Resequencing and Genotyping (RS&G) Service to make resequencing and genotyping services free to investigators seeking to identify a correlation to specific regions of the genome for heart, lung, blood, and sleep 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.

Guidelines
  • The RS&G Service only considers investigations using human DNA. Preference is given to researchers investigating the genetic components involved in the cause, variable outcome, and progression of heart, lung, blood, and sleep 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.
  • 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 priority order, regarding studies to be authorized 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 NHLBI.
  • If your application is declined, you may revise it and resubmit it for evaluation only two additional times.

RS&G Service Data Release Policies

The NHLBI DNA RS&G Service has the following data release policies:

  • The laboratory centers will release allele frequency data for each project, along with the number of samples and broad sample identifiers (e.g., continent of origin), to national databases 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.
  • In the case of Coriell DNA samples not submitted by investigators, the laboratory centers will also release genotypes within one month after releasing the data to the project investigator.
  • In the case of genotyping, there may be difficulties reporting allele frequency information for some projects (e.g., existing IRB approvals may not authorize release of summary information). In such cases, the investigator and the NHLBI will need to discuss possible courses of action to allow allele frequency information to be reported.

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 public databases 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).

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 of the Laboratory Center that provided the service.

"Resequencing services were provided by the University of Washington, Department of Genome Sciences, under U.S. Federal Government contract number N01-HV-48194 from the National Heart, Lung, and Blood Institute."

Or

"Resequencing services were provided by J. Craig Venter Institute under U.S. Federal Government contract number N01-HV-48196 from the National Heart, Lung, and Blood Institute."

Or

"Genotyping services were provided by the Johns Hopkins University under U.S. Federal Government contract number N01-HV-48195 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 genotyping/resequencing laboratory center implementation. Any other changes in the project, such as alterations in scope, genes, 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 six 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 genotyping/resequencing laboratory center and/or sample quality testing failures may lead to lower prioritization of the project.