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- Genome Technology Program3
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Educational Resources
A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing organisms to pass on genes from generation to generation.
… to generation. … Germ Line, Sexual Reproduction, Cell Biology … Germ line refers to the sex cells (eggs and …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… of conducting and disseminating Consortium-wide PRS analyses. … The Polygenic RIsk MEthods in Diverse populations … of conducting and disseminating Consortium-wide PRS analyses. … Polygenic RIsk MEthods in Diverse populations … of conducting and disseminating Consortium-wide PRS analyses. … Research Funding …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 … occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. The accumulation of … severe NPC1 symptoms. Credit: Darryl Leja, NGHRI.  With a single injection, mice showed improvements in motor …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… and Validation Centers will undertake applicant-proposed analyses of the data in order to characterize its quality and …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… Mutation … A missense mutation is when the change of a single base pair causes the substitution of a different amino … protein. … A missense mutation is when the change of a single base pair causes the substitution of a different amino …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… of the sickle allele will help clinicians redefine sickle cell subgroups and treat patients more effectively. This … "sickling" of red blood cells. ​ … Sickle allele, Sickle cell disease, Center for Research on Genomics and Global …
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.
… Monosomy … Monosomy is the state of having a single copy of a chromosome pair instead of the usual two …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The … micrograph of a human T lymphocyte (also called a T cell) from the immune system of a healthy donor. Source: … important for the function and identity of each individual cell type. In addition, a large number of disease-associated …
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.
… pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell. … researchers hoped that most forms of cancer were driven by single genetic mutations and could be treated by drugs that … chronic myeloid leukemia (CML). CML occurs because of a single genetic glitch that leads to the production of a …
Educational Resources
A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon where previously there was a codon specifying an amino acid.
… Mutation … A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon … … A nonsense mutation is the substitution of a single base pair that leads to the appearance of a stop codon …