Search Results
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … over and over again. … Researchers now are able to compare large stretches of DNA - 1 million bases or more - from … of gene regulation in disease. Ongoing and planned large-scale projects use DNA sequencing to examine the development …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program has funded … the expertise and flexibility to respond rapidly to the large number of emerging and evolving ELSI issues is … Genetics at Columbia University Medical Center is a scale-up of the Columbia University Exploratory Center Grant …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of … who are too young to give informed consent. … In a new analysis, a working group of the Clinical Sequencing …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… protocol navigation assistance to NIH investigators and staff in the development and administration of study protocols that require NIH … navigators with knowledge of the protocol review cycle and expertise in Institute and NIH policies and procedures, …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their findings in the …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers … helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … sequence data. With the advent of projects involving large numbers of samples from human subjects, this area is …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made … DNA code - that could contribute to disease; improved the analysis and interpretation of DNA sequencing results; and provided …
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
… Agenda 12:00 - 12:10 p.m. Welcome and Purpose of the Workshop  Valentina Di Francesco, M.S. … AnVIL  Anthony Philippakis, M.D., Ph.D. (Broad Institute) and Michael Schatz, Ph.D. (Johns Hopkins University) Session … of Philadelphia) and Valentina Di Francesco, M.S. (NHGRI) Analysis Tools  Moderators: Marylyn D. Ritchie, Ph.D. …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… With the numerous ongoing key collaborations between ASHG and NHGRI, I look forward to working closely with Amanda in … researchers propose that either these few events have a large impact or the extended duration of neural plasticity in … and a group from Ripple Effect, Inc. — completed a large-scale evaluation of the institute’s Centers of Excellence in …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Happy New Year to you and yours — and here’s to a 2024 featuring many breakthrough … technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be particularly …