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- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Genomics-Enabled Learning Health Systems (gLHS)1
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
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 …
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
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… that expand considerably the scale of data available for analysis in the newborn period. Clinical research that … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a … of one or more of the following research questions: For disorders currently screened for in newborns, how can …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… Dr. Bouffard performed data management and analysis for a YAC-based, STS content physical map of human chromosome … of the Bioinformatics Group, where he quickly established tools for sample tracking, data management and data analysis … the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Mol Vis, 8:205-20. 2002. [ …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
… a unit of genetic information encoding a particular amino acid. An anticodon is a trinucleotide sequence located at one … in a messenger RNA (mRNA) sequence. Each time an amino acid is added to a growing polypeptide during protein … on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the polypeptide. … An anticodon is a …