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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to … volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … and is interested in joining the study, please call our research assistant at 301-443-6160. They will ask you a few …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical Trials, Human Research Subjects … NHGRI …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
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 … addition to creating an essential resource for biomedical research, the HGP helped define NHGRI's niche: developing … of the GSP included two additional components: The Clinical Sequencing Evidence-Generating Research (CSER) . …
Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… The Summer Internship Program in Biomedical Research provides students at all … researchers present the latest findings in biomedical and clinical research, at a level geared towards advanced high …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Funded in 2016 … and analyze the data produced by the sequencing centers. … Research Funding …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… Benowitz … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made significant …
Research Training
A mentored, pre-tenure track junior faculty position during which time the incumbent designs and implements an integrated, translational research program.
… The Physician Scientist Development Program (PSDP) is a mentored, pre-tenure track junior faculty … designs and implements an integrated, translational research program. … The key elements of support for the … Human Genome Research Institute (NHGRI) and the NIH Clinical Center. The participant, with the assistance of the …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research … of research conducted within the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, …