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Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… uncovers important genomic features with implications for fertility, such as factors in sperm production. The … along with the X chromosome, is often discussed for its role in sexual development. While these chromosomes … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. … working with smaller pieces, each contains less context for figuring out where it came from, especially in parts of … these sequences before in our genome, and do not have many tools to test if the predictions we are making are correct. …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , … Thousands of researchers have developed better laboratory tools, computational methods and strategic approaches to …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… and Nature . While Science's Breakthrough of the Year for 2017 is the cosmic merger of two neutron stars, the … bonanza." Truly outstanding genomic accomplishments for 2017 - now let's see what 2018 brings us! All the best, … … and the field of genomics. … The NIH Intramural Sequencing Center (NISC) sits on the top floor of a research …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to … had also accomplished a series of other goals, including sequencing the genomes of a set of model organisms. In fact, … Maryland. Topics discussed at the meeting included tools for public education and research ethics, extramural …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… biological research in which researchers use a variety of tools to compare the complete genome sequences of different … which in turn may translate into innovative approaches for treating human disease and improving human health. … both plants and animals, consist of DNA (deoxyribonucleic acid), the chemical chain that includes the genes that code …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… (FMF). Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease. … A …
Research Funding
The CEGS Program supports multi-investigator, interdisciplinary research teams who develop novel and innovative genomic research projects.
… was established in 2000 to stimulate the development of novel approaches for conducting biomedical research at genomic scale. CEGS develop new concepts, methods, approaches, tools, and technologies utilizing the expertise of …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… Reports of genomic sequencing being applied to the medical care of individual … procedures (including simplified analysis and interpretive tools), and improved to integrating sequence information into … guide the development and dissemination of best practices for the integration of clinical sequencing into clinical …