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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
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual … be done before the use of sequence data becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) consortium has worked to …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds …
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 … speakers thought it was imperative to continue to build evidence linking genetic make-up to disease, and better …
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 … consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered an ethical framework …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… The Clinical Center Genomics Opportunity promotes precision … Institutes to effectively use genomic data in clinical research and clinical care. The NIH Office of Intramural … Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, or material of human … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … … Artery Calcification ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study Craniosynostosis …
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 … Zhao X, Cheng Q, et al. Integrative DNA, RNA and protein evidence connects TREML4 to coronary artery calcification. …
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 …