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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 at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to … tools ranging from high-throughput biologic methods, large scale informatics methods, classic bench laboratory …
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 …
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 … to be a memorable inaugural seminar. … Hybrid: Virtual and In-Person … MD … 50 South Drive … Room 1227 … Center for …
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, …
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 … 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 …
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 …