Search Results
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… … 1. Review of data We will review your de-identified sequencing data to look for possible secondary findings. All … Service (SGFS) will annotate new and existing exome and genome sequencing data for the presence of actionable … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… Steven Benowitz … On July 28-29, 2014, the National Human Genome Research Institute (NHGRI) convened geneticists, … provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … The two-day meeting, titled, … includes the Centers for Mendelian Genomics program, the Clinical Sequencing Exploratory Research (CSER) program and …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… For many years, the National Human Genome Research Institute (NHGRI) has tracked the costs associated with DNA sequencing performed at the sequencing centers funded by the … for establishing the DNA sequencing capacity of the NHGRI Genome Sequencing Program. Here, NHGRI provides an analysis …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code exhibition is currently … were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … On Nov. 12, Benjamin Solomon, M.D., started as NHGRI’s Clinical Director. In this position, he is responsible for … patients. For more information about Ben’s arrival, visit genome.gov . … NIH has released a DRAFT NIH Policy for Data …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers … multiple funding opportunity announcements. … The NHGRI Genome Sequencing Program (GSP) has evolved from NIH's … of the GSP included two additional components: The Clinical Sequencing Evidence-Generating Research (CSER) . …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each … D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome Research Institute (NHGRI) has appointed Benjamin …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic … infectious disease. … The nation's investment in the Human Genome Project (HGP) was grounded in the expectation that … and designing and testing the implementation of genome sequencing as part of an individual's clinical care. Within …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for all NHGRI clinical research protocols, as well as basic science studies …