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DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … scientists the kind of genetic information that is carried in a particular DNA segment. For example, scientists can use … Cancer Institute, is using DNA sequencing to unravel the genomic details of some 30 cancer types. Another National …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… science and society. I look forward to working with them in the coming months! In case you missed it live, the first … ensure that all members of society benefit equitably from genomic advances, with particular attention given to the … the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that … use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed … and designing and testing the implementation of genome sequencing as part of an individual's clinical care. Within …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's … to investigate the almost seven bad gene variants per patient, but it's an improvement over previous approaches …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… This month, we travel to Boston, MA to hold a Town Hall in partnership with the Massachusetts General Hospital on … of the public. Specifically, the discussions will focus on genomic variation identification, association, and function … of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… brings great anticipation about what this year might bring in terms of amazing genomic advances. Before staring too long into your crystal … and the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… the human genome sequence? The Human Genome Project ended in 2003, but genomic researchers had not yet determined every last base … with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … such as cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… complications. However, such special foods may cause harm in some patients when their use is not carefully monitored … on more than 10 years of observational studies with large patient groups involving two inborn errors of metabolism. The … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… for these researchers. The GS-IT strategy is to invest in existing tools of known utility to make them robust, … … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing Informatics …