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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
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 …
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 …
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). … …
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. …
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
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… of Health (NIH) researchers have sequenced the whole genome of a dog that is native to the mountains of Sardinia, … in it clues about the migration of humans to the area. (A genome is an organism's complete DNA sequence.) The findings, by scientists at the National Human …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …