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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
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … The human genome is made … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is … determine the amount of gene activity - also called gene expression - in a certain cell or tissue type. In humans and …
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 … and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple identical copies of a single gene from the same ancestor gene. Cloning an organism means …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… Other metabolic pathways actually help to build molecules. Gene-regulation pathways turn genes on and off. Such action … a certain product or a change in the cell. … Biochemistry, Gene Expression, Metabolism, Medication … A biological pathway is …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… form of blindness is associated with variation in the gene for complement factor H, which produces a protein … Study, the Women's Health Initiative and the Candidate Gene Association Resource, which pools DNA samples collected … … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… the information needed to build the entire human body. A gene traditionally refers to the unit of DNA that carries the … Specifically, an enzyme copies the information in a gene's DNA into a molecule called messenger ribonucleic acid … of all the bases in a large piece of DNA such as a gene, researchers need to read the sequence of overlapping …
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… the RNA do its job in the cell.  This process, where a gene produces RNA molecules, is also referred to as gene expression .  … One gene can produce many different …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… know that a mutation - or alteration - in a particular gene's DNA may contribute to a certain disease. However, it … DNA sequences, which together add up to the normal gene in question, and to variants (mutations) of that gene that have been found in the human population.  … When …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… have inactivated, or "knocked out," an existing gene by replacing it or disrupting it with an artificial piece of DNA. … Knocking out the activity of a gene provides valuable clues about what that gene normally does. Humans share many genes with mice. …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes … Newborn screening tests use a dried …