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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… pair instead of the usual two copies found in diploid cells. … Monosomy, Chromosome, Diploid, Genetic Diseasem, … in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells. When cells have one chromosome from a pair plus a …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
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.
… have already identified over 150,000 unique mRNAs in human cells, which is over seven times the number of genes in the … a protein) that is found in a virus. When the mRNAs enter cells in the body, the cells use the mRNAs to produce virus proteins and display …
For Teachers
A microbiome is all of the genetic material found in a microbe, such as a bacterium, fungal cell or virus.
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
Educational Resources
Cloning is the process of making identical copies of an organism, cell, or DNA sequence.
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… over 2 times more likely to die from prostate cancer than white men. Hispanic/Latino and Asian-American men are less … or a burning feeling. Erection may hurt and there can be blood in the urine or semen. Pain may also occur in the back, … and tissue around the prostate to check if the cancer cells have spread (called metastasis). Sometimes the surgery …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… identification of genomic variants associated with blood lipid levels. … In a large-scale study of people from … of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to …  Lipids are fat-like substances that can be found in blood and body tissues. They come in two major forms — …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… of the same gene in patients with a similar type of blood vessel inflammation. … The NIH group first encountered … ADA2 deficiency causes a faulty function in a subset of white blood cells called monocytes/macrophages. The faulty …