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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.
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 …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… in genomics are helping you access information about your genome from your home. … Did you know that anyone can buy a … in their DNA and provide them with information about their genome? Advances in genomics since the Human Genome Project have led to an explosion in at-home, or …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… blueprints for life. … Did you know that just knowing the genome sequence of an organism only reveals part of the story … important to determine how that organism interprets its genome and uses that information to build and operate itself … be like the sequence of a genome: it would reflect the structure of the road, but would not give information about …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …