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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 Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- 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
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 origin, in which the researcher directly interacts … advanced methods for studying the fundamental mechanisms of inherited and acquired genetic disorders. … Clinical …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed … to NHGRI as the newest faculty member to join its Division of Intramural Research. … The Physician-Scientist Development …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… Jeannine Mjoseth … In a new study of families affected by Attention Deficit Hyperactivity Disorder (ADHD), National Institutes of Health (NIH) researchers have identified different … author and an investigator in the Social and Behavioral Research Branch at the National Human Genome Research …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Jeannine Mjoseth … National Institutes of Health researchers have discovered a rare and sometimes … of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… has been a mystery - until now. … National Institutes of Health researchers and their collaborators identified 13 … new gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or … author and a staff scientist at the National Human Genome Research Institute's Center for Research on Genomics and …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… Ganguly, Ph.D. … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical … people in the US suffer from the condition, making it one of the most common and costly chronic diseases to treat. T2D … environment and lifestyle. “Family health history is one of the most powerful predictors of the risk a person carries …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… and Public Liaison Branch … An international team of researchers has identified genomic mutations for … Clinical Center , a new funding mechanism that encourages intramural and extramural researchers to work together at the … of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Exome Aggregation Consortium (ExAC) harbor large numbers of genotypes (an individual's collection of genes). Until now, it has been difficult for researchers … color or blood type. The project reverses a long-standing research paradigm of examining a person's traits or symptoms …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… Categories for the notable accomplishments of research are defined (below) as research that uses genomics … a need for broader research for the systematic uptake of genomic research findings and other evidence-based …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for …