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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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- 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
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… a person’s risk of developing a condition, disorder or disease. … A pathogenic variant is a genomic variant that may … condition but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur … due to factors such as environmental exposure and aging. … A pathogenic variant is a genomic variant that …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
… Significance (VUS) … When analysis of a patient’s genome identifies a variant, but it is unclear whether that … significance (abbreviated VUS). In many cases, these variants are so rare in the population that little … more extensive population data, functional studies, and tracing the variant in other family members who have or …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, … that results from the contributions of multiple genomic variants and genes in conjunction with significant influences …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide … GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers … information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… Green, M.D., Ph.D. … To productively use a long, blank (and boring) hallway near my office in Building 31 on the NIH … a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, … disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during middle …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… is helping us understand what makes each of us different and what makes us the same. … Did you know that at the base-pair level your genome is 99.9 percent the same as all of the humans around … today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated … the chance to identify a previously unrecognized risk for disease that could change the medical management of that patient and potentially prevent or more effectively treat the …