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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
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 … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards just announced by the National … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… a community-based cohort and novel genomic science resource for defining the biological significance of … be consented and invited to an evaluation visit in the NIH Clinical Center; and 2) we will conduct a community outreach … Coordinator National Institutes of Health National Human Genome Research Institute (NHGRI) Genomics of Metabolic, …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… advances. … Genomic Medicine, Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, …
News Release
A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve genomic literacy among physicians.
… Kiara Palmer … A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve … practices and develop resources in genomic education and clinical care. This new resource builds on a curriculum …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… uncovered the final DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … The Human Genome Project ended in 2003, but genomic researchers had not … yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … taking place at NIH is critical. The same cutting-edge clinical medicine that was used to help Rohith might help … M.D., Ph.D., scientific director of the National Human Genome Research Institute's (NHGRI) Division of Intramural …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… … As public interest and expanded research in human genome editing grows, many questions remain about ethical, … are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s National/National Human Genome Research Institute program. After completing this … bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. …