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- Genetic Architecture of Complex Traits1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
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 … Office of Intramural Research (OIR), the National Human Genome Research Institute (NHGRI), the Deputy Director of … Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… Bruce Agnew … 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 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director …
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 … becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions …
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 … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will …
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 … 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 …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program Coordinating Center (GSPCC) was funded in … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Coordinates …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different … of human genetics studies and the increasing number of clinical applications for genome sequencing, even greater …