About the Service

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

National Heart, Lung, and Blood Institute

The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders.

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

NHLBI RS&G Service

The NHLBI Resequencing and Genotyping (RS&G) Service was established in 2004. The goal of the RS&G Service is to provide quick and reliable DNA resequencing and genotyping of genes and candidate genomic regions that may be important in the disease pathways of heart, lung, blood, and sleep diseases and disorders. The service is provided free of charge to qualifying researchers involved in ongoing investigations of the genetic components involved in the cause, variable outcome, and progression of heart, lung, blood, and sleep diseases and disorders. Services are provided by three laboratory centers supported logistically by an administrative coordinating center. Investigators interested in being considered for the services must submit an application online to the RS&G Service. See How to Apply for complete details on submission deadlines, guidelines for using the service, and instructions for completing and submitting an application.

RS&G Service Laboratory Centers

University of Washington

The University of Washington is one of two laboratory centers that provide resequencing services. Debbie Nickerson is serving as Principal Investigator and Mark Rieder as co-Principal Investigator. Production and analysis at the center is supervised by Dr. Bob Livingston. Suzanne Da Ponte is the technical lead. The group has extensive experience in resequencing across entire genes (coding and noncoding regions) and proven skills to handle the problems that whole-gene resequencing entails (e.g., handling repeated sequence in PCR development or sequences with insertion/deletion polymorphisms). Their approach utilizes direct resequencing of PCR amplicons generated from genomic DNA and analyzed using an established, state-of-the-art, high-throughput, four-color, fluorescence-based sequencing method implemented on the Applied Biosystems DNA sequence analyzer platform.

Home Web Page: http://www.washington.edu/

RS&G Web Page: http://rsg.gs.washington.edu/

J. Craig Venter Institute

The J. Craig Venter Institute is one of two laboratory centers that provide resequencing services. The Venter Institute offers high-throughput resequencing of genes and genic regions using a PCR-based strategy for the amplification of genomic DNA followed by capillary-based dye-terminator sequencing. The Venter Institute resequencing capability is provided by a team of scientists, technical and software engineers with extensive experience in gene resequencing for polymorphism detection. The group is led by Samuel Levy (Principal Investigator), and Robert Strausberg and Ewen Kirkness (co-Principal Investigators). Resequencing efforts are headed by Yu-Hui Rogers and Steven Ferriera, and computational analysis of traces is lead by Tim Stockwell. The pipeline employs internally developed and deployed laboratory automation for sample receipt, storage, and tracking from PCR through to sequencing. Novel trace processing software is used for the semiautomated detection of SNP and insertion/deletion polymorphisms. All trace data can be viewed using commonly employed tools like Consed, and all polymorphisms are characterized using the most current gene annotations to identify corresponding changes in functional sequence.

Home Web Page: http://www.venterinstitute.org/

RS&G Web Page: http://www.venterinstitute.org/jtc/resequencing.php

Johns Hopkins University

The Johns Hopkins University (JHU) provides genotyping services. Alan F. Scott leads this effort along with Kim Doheny, Elizabeth Pugh, and Laura Kasch-Semenza. Genotyping at JHU is performed through the Fragment Analysis Facility and the SNP Center, each units of the Genetic Resources Core Facility within the McKusick-Nathans Institute of Genetic Medicine. The Fragment Analysis Facility houses instrumentation for low-volume genotyping (Nanogen and Taqman instruments) as well as pipetting workstations for sample handling and quantitation. The SNP Center is located adjacent to the Center for Inherited Disease Research, an NIH genotyping facility operated under contract to JHU, and includes an Illumina BeadLab system for high-throughput genotyping of custom and fixed-format SNP arrays.

Home Web Page: http://www.jhu.edu/

RS&G Web Page: http://snpcenter.grcf.jhmi.edu/access.html

RS&G Service Administrative Coordinating Center

Constella Group

Constella Group operates the Administrative Coordinating Center (ACC) for the NHLBI RS&G Service. The ACC provides technical, administrative, and logistical services in support of the entire RS&G Service, including coordinating the application submission process and maintaining this Web site. Gabriella Ryan-Adams serves as Principal Investigator for the ACC. Other members of the ACC Project Management Team are Thomas Tamura, Task Leader for Application Processing; Nira Walker, Task Leader for Meetings, Conference Calls, and Exhibits Management; Mitchell Klein, Task Leader for Website/MIS Development & Implementation; and Beverly Warden, Corporate Monitor.

Home Web Page: http://www.constellagroup.com/

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 Prevention and Population Sciences, the Division of Cardiovascular Diseases, and the Division of Lung Diseases. Representatives from each of these four divisions comprise the NHLBI Management Team that provides programmatic oversight for the RS&G Service. Members of the Team are Deborah Applebaum-Bowden, Coordinator; Dina Paltoo, Deputy Coordinator; Weiniu Gan; Pankaj Qasba; and Phyliss Sholinsky.

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 priority order, regarding studies to be authorized and selected to use the services. The objective of the review is to ensure that the RS&G Laboratory Centers provide 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 regarding programmatic priority, feasibility, adequacy of the size and power, and data sharing plan.

Steering Committee

The Steering Committee consists of the two representatives from NHLBI, and the Principal Investigator and one additional representative from each of the Laboratory Centers and the ACC. 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, blood and sleep 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 Centers and the Administrative Coordinating Center and makes recommendations to the NHLBI regarding management of the RS&G Service.