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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Intramural Research Program , which conducts basic and clinical research to enable a greater understanding of human … and genomics researcher with expertise in statistical genetics, computational science, biochemistry, health … Branch. He has designed and led major basic science and clinical research projects in human genomics. Dr. Rotimi is …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… M.D., chief of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human Genome Research … Johnston, Ph.D., lead author and staff scientist with the Clinical Genetics Section of the MGMGB. The research is part … challenges facing individualized genome sequencing in a clinical research setting. Once they identified participants …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… using a person’s genomic information as part of their clinical care. … Genomic medicine is a medical discipline … using a person’s genomic information as part of their clinical care. Other similar terms include individualized … using a person’s genomic information as part of their clinical care. … Talking Glossary …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.