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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 Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… by some colorful dyes used in research. … The unique structure of chromosomes keeps DNA tightly wrapped around … do occur on rare occasions. Changes in the number or structure of chromosomes in new cells may lead to serious … of chromosomes and that those chromosomes have the correct structure. If not, the resulting offspring may fail to …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a pair. A structural abnormality means the chromosome's structure has been altered in one of several ways. … … cells and blood cells. In the center of most cells is a structure called the nucleus. This is where chromosomes are … The karyotype can help identify abnormalities in the structure or the number of chromosomes. To help identify …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
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.
… In 2003, an accurate and complete human genome sequence was finished and made available to scientists … and researchers two years ahead of the original Human Genome Project schedule and at a cost less than the original … effort to sequence the 3 billion DNA letters in the human genome is considered by many to be one of the most ambitious …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… suspects, and victims of crimes and disasters. … Your genome is the operating manual containing all the … And it’s unique to you. The more you know about your genome and how it works, the more you'll understand your own … in the highly structured and tightly packed nature of the genome. … Genomes are made of DNA, an extremely large …
News Release
April 25, 2023 marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being celebrated as part of National DNA Day.
… National DNA Day commemorates Human Genome Project’s completion and discovery of DNA’s double-helical structure. … Today marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual … of sexual development, but other genes throughout the genome play a role. This complex process gives rise to the …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency and precision. … Did you … that in the 15 years since we finished reading  the human genome sequence for the first time, we have developed … real. These new methods offer the ability to change the genome in a way that could be passed on for generations. But …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …