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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
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social … promising genetic-based curative therapies safely into clinical trials.  NIH is working closely with the Centers …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… and heart disease usually stem from a complicated mix of genetics and lifestyle. While changes in many genes … and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These findings, reported in the American Journal of Human Genetics , demonstrate the need to improve these AI tools … said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research … fellow who led the study. “There are not very many clinical geneticists in the world, and in some states and …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …
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 …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… Jeannine Mjoseth … The Genetics/Genomics Competency Center (G2C2), a free, online … pharmacogenomics," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "The new … For example, the website PharmGKB and guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC) …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org … to bridge the gap," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "Genomic … Physicians' societies, including the American Society of Clinical Oncology, the American Academy of Pediatrics and the …
News Release
The NHGRI-ASHG Genetics and Public Policy Fellowship prepares scientists for careers in science policy.
… decisions that guide genomic research and its use in the clinical setting. Understanding the interplay of policy and … Institute (NHGRI) and the American Society for Human Genetics (ASHG) are committed to strengthening the workforce of policy makers and analysts with genetics professionals who want to learn how to create the …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Ganguly, Ph.D. … eMERGE Network will support multiple clinical sites and a coordinating center with $75 million … for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the … eMERGE Network  to support both a coordinating center and clinical sites specifically focused on better understanding …