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About Us

National Heart, Lung, and Blood Institute
NHLBI RS&G Service
RS&G Service NHLBI Management Team
RS&G Service Laboratory Center
RS&G Service Administrative Coordinating Center
RS&G Service Consortium Committees

National Heart, Lung, and Blood Institute

The National Heart, Lung, and Blood Institute (NHLBI) provides global leadership for a research, training, and education program to promote the prevention and treatment of heart, lung, and blood diseases and enhance the health of all individuals so that they can live longer and more fulfilling lives.

NHLBI Web Site: http://www.nhlbi.nih.gov/

NHLBI RS&G Service

Researcher examining equipment that processes samples

The NHLBI stimulates basic discoveries about the causes of heart, lung, and blood disease and enables the translation of basic discoveries into clinical practice. To provide important new insights into the pathobiology of heart, lung, and blood diseases and disorders, the NHLBI established the DNA Resequencing and Genotyping (RS&G) Service in 2004. The resource provides custom high throughput DNA resequencing and genotyping of candidate genes and genomic regions.

The RS&G Service is offered at no cost to qualified investigators. Priority will be given to researchers seeking to identify the specific genes and regions of the genome involved in the cause, variable outcome, and progression of heart, lung, and blood diseases and disorders.

The requests for resequencing and genotyping must be submitted through the website. High quality DNA must be available at the time of application submission. IRB approval for the requested project must be document in the application. An independent Evaluation Panel reviews and ranks the applications. Final selection of projects for access to the RS&G Service is made by the NHLBI.

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RS&G Service NHLBI Management Team

The NHLBI RS&G Service is an Institute-level program supported by the Division of Blood Diseases and Resources, the Division of Cardiovascular Sciences, and the Division of Lung Diseases. Representatives from each of these three divisions comprise the NHLBI Management Team that provides programmatic oversight for the RS&G Service. Members of the Team are Deborah Applebaum-Bowden, Coordinator; Weiniu Gan; Pankaj Qasba; and Phyliss Sholinsky.

RS&G Service Laboratory Center

The RS&G Service Laboratory Center at the University of Washington provides high throughput resequencing and genotyping services for projects assigned by the NHLBI. The center offers next-generation exome and targeted capture sequencing; a variety of genotyping assays; and a limited amount of traditional Sanger resequencing. Principal Investigators Debbie Nickerson and Mark Rieder lead the center, and for more than a decade they have pioneered the development and application of targeted and medical resequencing and genotyping. This work has provided novel insights into sequence variation and its link to phenotype in humans.

RS&G Service Administrative Coordinating Center

SRA International, Inc. is serving as the Administrative Coordinating Center (ACC) for the NHLBI RS&G Service. Gabriella Ryan-Adams is serving as Principal Investigator for the ACC. The ACC provides administrative and logistical support for all aspects of the RS&G Service, including coordinating the application submission process, maintaining the website, and representing the resource at national meetings.

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RS&G Service Consortium Committees

Evaluation Panel

The RS&G Evaluation Panel is comprised of expert scientists from outside the RS&G Service. The Evaluation Panel reviews requests (applications) from investigators submitted to the RS&G Service for resequencing or genotyping services and makes recommendations, in rank order, regarding studies to be selected to use the services. The objective of the review is to ensure that the RS&G Laboratory Center provides services to the most meritorious, high caliber genetic studies focused on finding genes associated with a disease or trait of interest. The review will consider each request with regard to programmatic priority, feasibility, adequacy of the size and power, and the plans for data sharing.

Steering Committee

The Steering Committee consists of two representatives from the NHLBI, the Principal Investigator and one additional representative from the Laboratory Center and the Principal Investigator and one additional representative from the Administrative Coordinating Center. The Steering Committee develops guidelines and procedures for the operation of the RS&G Service. In addition, the Steering Committee is responsible for advising NHLBI on RS&G Service status, providing suggested changes to accomplish stated time, accuracy and capacity goals, and recommending ways to improve the effectiveness and cost-efficiency of services provided.

Oversight Committee

The Oversight Committee is comprised of individuals with expertise relevant to the mission and operation of the RS&G Service, including - but not limited - to high-throughput sequencing and genotyping; quality assurance; heart, lung, and blood disorders; population genetics; quantitative genetics; and related disciplines such as biostatistics, molecular genetics and genomics. The Oversight Committee reviews and evaluates the performance of the Laboratory Center and the Administrative Coordinating Center and makes recommendations to the NHLBI regarding overall management of the RS&G Service.

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