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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 … Program (GSP) has evolved from NIH's participation in the International Human Genome Sequencing Project (HGP). … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across …
Fact Sheet
Sickle cell disease resources for patients
…  Cure Sickle Cell  Talking With Your Doctor or Health Care Provider  National Institutes of Health (NIH) Social … trials … Other helpful resources … Explore this page … Patient resources for sickle cell disease gene therapy … Patient resources for sickle cell disease gene therapy … …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… of the National Human Genome Research Institute’s Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program. …
Health
Information about genomics competencies, patient care, and related partnership and outreach activities at NHGRI.
… Genomic knowledge is growing and ever-changing, and it’s … up-to-date information about genomics competencies, patient care, and our partnership and outreach activities. … Related …
Talking Glossary
The genome reference sequence provides a general framework and is not the DNA sequence of a single person.
… as a standard for comparison to DNA sequences generated in their studies. The scientists responsible for assembling … of the sequence and structural diversity found in the human genome among populations. The genome reference …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… In 2003, an accurate and complete human genome sequence was … the project took on a wide range of other goals, from sequencing the genomes of model organisms to developing new … mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… and conducting the planned 2022 research activities. In a bit of additional internal reorganization, NHGRI’s … specifically, the Office of Communications, the Office of Genomic Data Science, and the Training, Diversity, and Health … approach of using the best-available technologies for sequencing DNA and pushing them to their absolute limits. In …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland, on February 2, 2017. The … to develop best practices for the implementation of genomic sequence data into clinical care, as well as research that combines biorepositories with …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… until only one is left. House always gets it right. … In reality, the practice of medicine is expensive and doesn't … all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to … way of practicing is not without its challenges. With more genomic advances in the medical arena comes a wider gap in …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; … into newly described disorders. The study was published in the American Journal of Human Genetics . “We demonstrated … of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which together allowed analyses to be …