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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
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … (such as falls, motor vehicle accidents or poisoning), genomic factors play a role in nine of the ten leading causes …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Autosome, Birth Defect, Gene, … is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: … a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … strategy to advance our ability to find and characterize genomic variants, the genomic elements in which they reside …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… then a postdoctoral research fellow in the laboratory of genomics pioneer Maynard Olson at Washington University … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … for NIH grants that are not focused on Alzheimer’s disease Genomic innovator award Advancing genomic medicine ( …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Jeannine Mjoseth … The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that … the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … the gene variant that causes the disease using a genomic technique called whole exome sequencing. "Genome …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… available to scientists and researchers two years ahead of the original Human Genome Project schedule and at a cost … mouse and rat April 2003 Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide … to track inheritance in families and susceptibility to disease, so scientists are working hard to develop a …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… disorder. The results help to determine a person’s risk of developing the specific disorder being tested for. These … your ancestry, kinship, lifestyle factors and potential disease risk. … Forensic testing is carried out for legal … it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA … resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … genome sequences and to understand the consequence of genomic variation," said Elise Feingold, Ph.D., a program …