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News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource … It gives us unique insights into how people differ in gene expression in tissues and organs." NIH launched the GTEx … expression activity. An eQTL is an association between a variant at a specific genomic location and the level of …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. … DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … imprinting is the process by which only one copy of a gene in an individual (either from their mother or their …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Sequencing, Genome Sequencing, Secondary Findings, Genetic Variant, Gene Variant, Gene Variation …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… of Health researchers have identified a novel role for a gene known as heat shock protein 60 ( Hsp60 ), finding that … "This study proposes an unusual role for a well-known gene," said Shawn Burgess, Ph.D., head of NHGRI's … today in the journal npj Regenerative Medicine . "This gene is found in every organism from bacteria to man. We have …
Educational Resources
A genotype is an individual's collection of genes.
… A genotype is a scoring of the type of variant present at a given location (i.e., a locus) in the … For example, BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA …
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).
… Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple … acute lymphoblastic leukemia. Some people have a genetic variant that interferes with their ability to process this … and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Genes, Cancer, Heart Disease, Gene-environment Interactions … that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include …
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… A promoter is a sequence of DNA needed to turn a gene on or off. … Deoxyribonucleic Acid (DNA), Enzyme, Gene, Gene Expression, Gene Regulation, Messenger RNA (mRNA), … as related to genomics, is a region of DNA upstream of a gene where relevant proteins (such as RNA polymerase and …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never … SCT means that a person has inherited the sickle cell gene from a parent. … sickle cell trait, Vence Bonham, gene variant …
Educational Resources
Polymorphism involves one of two or more variants of a particular DNA sequence.
… related to genomics, refers to the presence of two or more variant forms of a specific DNA sequence that can occur among …