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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 …
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 …
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 …
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 …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… Comparative genomics is a field of biological research in which researchers use a variety of tools to compare the … pinpoints genes that are essential to life and highlights genomic signals that control gene function across many … biology of living things have changed over time. As DNA sequencing technology becomes more powerful and less …
Educational Resources
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule.
… DNA Sequencing … DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. … Adenine, Cytosine, Guanine, Thymine, …
Talking Glossary
La hibridación in situ es una técnica de laboratorio empleada para localizar una secuencia de ADN o ARN en una muestra biológica.
… Hibridación in situ … La hibridación in situ es una técnica de laboratorio empleada para localizar … una secuencia de ADN o ARN en una muestra biológica. … In situ hybridization is a laboratory technique used to …