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News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… 6, 2017, in Nature Communications . "Advances in genomics technology and the power of team science have enabled us to … promising candidate for further studies. Using CRISPR-Cas9 technology , a tool for editing DNA at precise locations, a … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and …
Fact Sheet
mRNA vaccines inject cells with instructions to generate a protein that is normally found on the surface of SARS-CoV-2, the virus that causes COVID-19.
… mRNA vaccines may seem to have arrived quickly, but this technology is built on decades of scientific research that … One of the most exciting aspects of mRNA technology is how rapidly it can be developed to target a …
Policies and Guidance
This page provides an overview of Resource Sharing Plans, a required document in most NIH funding applications. Most applicants for NIH funding must provide a Resource Sharing Plan (RSP) documenting plans for sharing resources that result from their federally funded work. NIH Policies that govern the sharing of resources include the NIH Model Organism Sharing Policy and the NIH Research Tools Policy.
… encourages researchers to work with their institutions and technology transfer staff well in advance of anticipated publication or …
Policies and Guidance
NHGRI does not collect personally identifiable information about you on genome.gov unless you volunteer to provide it.
… which NHGRI is a part, does not disclose, give, sell, or transfer any personal information about visitors to its … to privacy and data safeguarding standards. Information Technology (IT) systems owned and operated by NIH are … Purpose of the web measurement and/or customization technology; Usage tier, session type, and technology used; …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… activity.” NIH and the White House Office of Science and Technology Policy are organizing a series of virtual … Take, for example, NHGRI’s investment in DNA sequencing technology development and genome sequencing applications. … support research activities in this area. The NHGRI Genome Technology Program is active in issuing funding opportunities …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… every two years (See: Moore's Law [wikipedia.org]). Technology improvements that 'keep up' with Moore's Law are … graphs: Quality assessment/control for sequencing projects Technology development to improve sequencing pipelines … Mardis E. A decade's perspective on DNA sequencing technology. Nature , 470: 198-203. 2011. [ PubMed ] Metzker …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Multi-omics Michael Snyder, Stanford University Session 2: Technology, Data Integration and Study Design Moderator: Dave … 3:05 p.m. Presentation 1 - Experimental and Computational Technology / Big Data Xihong Lin, Harvard University 3:05 - … Institute 3:45 - 4:00 p.m. Break Guided Discussion - Technology, Data Integration and Study Design Moderator: Ajay …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… called the adeno-associated virus serotype 9 (AAV9) to transfer functioning NPC1 to the cells. The AAV9 containing a … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.