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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Educational Resources
Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism.
Educational Resources
An intron is a portion of a gene that does not code for amino acids.
… Intron … An intron is a portion of a gene that does not code for amino acids. … Intron, Exon, Amino Acid, DNA Sequence, Gene … An intron is a region that resides within a gene but does not remain in the final mature mRNA molecule …
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.
… 30 years ago. …  Researchers from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund … a set of studies describing how DNA variation can alter gene expression. The group of papers, published in Science … most comprehensive catalog of genomic variants that affect gene expression produced to date. The studies focus on …
Educational Resources
A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution.
… … A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution. … Deoxyribonucleic Acid (DNA), Gene, Evolution, Mutation … A pseudogene is a segment of DNA that structurally resembles a gene but is not capable of coding for a protein. Pseudogenes …
Educational Resources
A knockout typically refers to an organism that has been genetically engineered to lack one or more specific genes.
… specific genes. … Knockout Mouse, Genetic Engineering, Gene, Laboratory Experiment … A knockout, as related to … knockout organisms to study the impact of removing a gene from an organism, which often allows them to then learn something about that gene’s function. … Educational Resources …
Educational Resources
Heterozygous refers to having inherited different forms of a particular gene from each parent.
… refers to having inherited different forms of a particular gene from each parent. … Heterozygous, Homozygous, Gene, Family Health History, Mutation … Heterozygous, as …
Talking Glossary
Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. regulating the production of proteins that the gene encodes.
… make more cells. When found in DNA, methylation can alter gene expression. In this process, chemical tags called methyl … to a particular location within DNA where they turn a gene on or off, thereby regulating the production of proteins …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… will be affected by a particular genetic disorder. … Gene, Gene Environment Interaction, Inherited, Susceptibility … … because they inherit a genetic variant (or allele) in one gene or a combination of many variants in different genes …
Educational Resources
Proteins are an important class of molecules found in all living cells.
… class of molecules found in all living cells. … Cell, Gene Amplification, Amino Acids, Gene … Proteins are large, complex molecules that play many … are determined by the DNA sequence of the protein-encoding gene. … Proteins are an important class of molecules found in …
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
… that the individual will develop a particular disease. … Gene, Gene Environment Interaction, Inherited, Risk … …