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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
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… learning analyses could benefit disease research and genomic tools like CRISPR.  NHGRI is identifying and shaping its unique role in the convergence of genomic and machine learning research. … What are machine … has led to the generation of an extraordinary amount of genomic data. Estimates predict that genomics research will …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables … our ability to decipher the information it contains, so genomic data science will be a vibrant field of research for many years to come.  Performing genomic data science carries with it a set of ethical …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… ethical, legal and social issues including utilization of genomic information, access to genomic services, and how genomics is perceived by different … pre-doctoral and post-doctoral, and career development awards, the NHGRI provides additional opportunities for …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… that contribute to desirable traits and select for those genomic variants in future crops. … The ability to read … meet these demands, farmers will continue to incorporate genomic technologies into their practices, whether through genome monitoring during conventional breeding or genomic modifications with older or newer technologies, like …
15 Ways Genomics Influences Our World
Genomics is establishing more robust methods for DNA-based forensic analyses.
… genome sequence that differs between people [see Human Genomic Variation ] are a number of areas where very short … to high pressure, moisture, or temperature. Advances in genomic technologies, including DNA sequencing, are allowing … what humans looked like in the past and now. Recently, genomic analyses of a set of 10,000-year-old human remains in …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… that DNA sequencing now allows us to test for specific genomic variants in an unborn baby using a small sample of a … theirs are becoming more common thanks to advances both in genomic technologies and in improving access to care . Dr. … Professionals NHGRI/CSER Clinicians - A Guide to Genomic Test Results for Non-Genetics Providers American …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… disorder. It is difficult to overstate the relief that genomic testing has brought to many of these patients and … a large number of patient groups have formed after the genomic cause has been identified for a specific rare …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… each drug works pretty much the same in everybody. But genomic research has changed that "one size fits all" … of the drug. … Much research is underway to understand how genomic information can be used to develop more personalized … broad action against a disease. Researchers are now using genomic information to find or design drugs aimed at …
15 Ways Genomics Influences Our World
Genomics helps us understand evolution and protect our biological ecosystems.
… have imagined the full complexity of the tree of life, but genomic technologies have been used to illuminate the natural … same animal lineage over many years of evolution! Similar genomic studies involving thousands of other life forms have … into about every branch on the tree of life.  Recent genomic discoveries have forced us to rethink many …