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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… frequent, but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most … policies, standard procedures (including simplified analysis and interpretive tools), and improved to integrating … and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… DNA Sequencing Technology program of the National Human Genome Research Institute (NHGRI), a part of NIH. The new … unique approaches to sequencing DNA," said NHGRI Genome Technology Program Director Jeffery Schloss, Ph.D. Dr. … Investigator: Mark Akeson, Ph.D. Investigators plan to sequence single DNA molecules by using a nanopore device …
About Genomics
An interactive timeline listing key moments from the history of the project.
… and values of NHGRI. … Completed in April 2003, the Human Genome Project gave us the ability to read nature's complete … two published reports recommend creating an effort to sequence the human genome. The National Research Council … Human Genome Sequencing Consortium publishes an initial analysis of the human genome sequence. More + 2001 On Feb. …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… uncovered the final DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … … determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the … Aganezov et al. A complete reference genome improves analysis of human genetic variation . Science 376. Doi: …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… MacDougall … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … differences between the patient's DNA and a reference sequence for the human genome. These variants may point to … potentially invasive and stressful, diagnostic odyssey. Analysis of the results may produce incidental …
Talking Glossary
While some sequencing technologies produce reads that are only a few hundred nucleotides long, some methods can generate reads that are thousands to hundreds of thousands of nucleotides long, known as “long-read DNA sequencing.”
… These long reads are easier to assemble because the sequence is broken into fewer fragments. … While some …
Educational Resources
Linkage is the close association of genes or other DNA sequences on the same chromosome.
… genes or other DNA sequences on the same chromosome. … DNA Sequence, Linkage Analysis, Family Health History, Chromosome … Linkage, as …
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.
… New sequence reveals genomic factors in fertility, including … a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National … involved in human sexual development are spread across the genome and very complex, giving rise to the array of human …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… Leslie Biesecker, M.D., chief of the National Human Genome Research Institute's (NHGRI) Medical Genomics and … which genetic test or panel to order. "Having a patient's genome changes the paradigm of how medicine is currently … data boom in genomics. "It's not much of a challenge to sequence a genome anymore," said Utah's Lynn Jorde, Ph.D. …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… 100th meeting of the National Advisory Council for Human Genome Research (NACHGR) will take place on September 18 and … group reported the generation of the first truly complete sequence of a human Y chromosome. While scientists completed … genomic data, such as through NHGRI’s Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL). … …