Search Results
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… loan, or order them online. National Network of Libraries of Medicine (NNLM) nnlm.gov/members Designed to help you find health information from libraries in your area. LinkOut …
FAQ
Frequently asked questions from the May 23, 2023 informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… Resources ** Given the large number of resources available regarding the DMS Policy, … of research (e.g., clinical trials, research generating large-scale genomic data) continue to apply and complement … such as those listed by the Johns Hopkins Libraries  or the UK Data Archive . Investigators are also …
File
… ed a concept for three RFAs: Nucleic Acid Sequencing , Synthetic Nucleic Acids , and a Coordinating Center RFA . The … and novel clinical application s. The goal of the new Synthetic Nucleic Acids RFA is to produce cheaper, more accurate , and longer oligonucleotide s and very large synthetic constructs of double strand DNA with base …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… cancer as a genomic disease and driving innovation in large-scale genomics, analysis tools, and data sharing in … P., Kyrpides, N., Markowitz, V., Straatsma, T.P. Bringing large-scale multiple genome analysis one step closer: … J. A dynamic multiscale magnifying tool for exploring large sparse graphs. Information Visualization , 7: 105-117. …
Policy Issues
In June 2013, the Supreme Court determined that DNA in its natural form cannot be patented.
… this debate has occurred, there have been concerns that large numbers of patents associated with the human genome … subject matter. However, the court did find that cDNA, synthetic DNA molecules that contain only the exons  of a …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers, clinicians and genetic testing laboratories. "Large-scale sequencing of whole genomes today often means …
Research Funding
The Genome Technology Program is refining current technologies to increase efficiency and decrease cost while maintaining or improving data quality.
… and genotyping along with epigenetic, functional, and synthetic genomics experiments. The development of completely … R21: RFA-HG-21-007 R43/R44: RFA-HG-21-008 Novel Synthetic Nucleic Acid Technology Development R01: …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… variables in genetic studies?  There are currently large efforts to diversify the demographics of genetic … within and between individuals, families, and populations. Large-scale genetic, genomic, and phenotypic data now provide …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… work, NHGRI intramural researchers must responsibly share large-scale genomic data with the broader research community. … Claire joined the NHGRI TTO in 1999. The office oversees a large range of activities that involve the exchange and … last year alone. This, Claire said, is likely an unusually large return in one year, the product of well-crafted patents …