Search Results
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, as well as Federal …
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney … incorporating diverse aspects of data, computation, and molecular biology to make breakthroughs in our … Hybrid: Virtual and In-Person … Center for Genomics and Data Science Research Special Seminar …
Training, Diversity and Health Equity Office (TiDHE)
The Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at institutions that have not recently received significant funding from NIH.
… Current Centers … The Centers for Genome Research Consortium aims to support the … genomic research projects through infrastructure building and the formation of interdisciplinary research teams at … have not recently received significant funding from NIH and who have not participated in genomics research. These …
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 funded through multiple funding opportunity … The NHGRI Genome Sequencing Program (GSP) has evolved from NIH's participation … helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The …
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 … low-set ears (80 percent), short stature (70 percent) and a heart problem called pulmonary stenosis (50 percent). …
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. …
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 … Maryland, for a one-day conference, Integrating Genomic Sequencing into Clinical Care: CSER and Beyond . The meeting …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… in society) we begin defining a “new normal” for our work and lives. Also, in last month’s The Genomics Landscape , I … Promote robust and consistently applied standards in genomics research — the … team and our patients, extending to humanity at large. And that trust, in turn, is built upon the scientific …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… Elkahloun obtained his B.Sc. from the University of Caen, and a M.Sc. and Ph.D. from the University of Rennes, France. … in 1993. At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … sets to use as framework for diagnostics, drugs treatment and/or assays to further define the disease in question. Most …
Talking Glossary
Nanopore DNA sequencing is a laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule.
… Nanopore DNA Sequencing … Nanopore DNA sequencing is a laboratory technique for determining the … Nanopore DNA sequencing is a laboratory technique for determining the … to by the first letters of their chemical names: A, T, C and G) encodes the biological information that cells use to …