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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
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
Educational Resources
Mitosis is a cellular process that replicates chromosomes and produces two identical nuclei in preparation for cell division.
… by equal division of the cell’s content into two daughter cells that have identical genomes. … Mitosis is a cellular …
Educational Resources
Endoplasmic reticulum is a network of membranes inside a cell through which proteins and other molecules move.
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… boards of Trends in Cardiovascular Medicine , ISRN Stem Cells , Atherosclerosis , and Journal of Molecular Medicine . … diseases, precision medicine, human induced pluripotent stem cells (hiPSCs), arterial calcification … Dr. Manfred …
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.
… Germ Line … A germ line is the sex cells (eggs and sperm) that are used by sexually reproducing … Reproduction, Cell Biology … Germ line refers to the sex cells (eggs and sperm) that sexually reproducing organisms … to the next (parents to offspring). Egg and sperm cells are called germ cells, in contrast to the other cells …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… origin of the mutation that causes sickling of red blood cells, which reduces their ability to carry oxygen and can … origin of the mutation that causes "sickling" of red blood cells. ​ … Sickle allele, Sickle cell disease, Center for … origin of the mutation that causes "sickling" of red blood cells. … News Release …
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.
… Expired Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers … November 2, 2022 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Production Research and … November 2, 2021 Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Phase 1: Data Analysis and Validation Centers …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… occur when the immune system mistakenly attacks its own cells, causing inflammation. Different tissues are affected … Dr. O'Shea's team began by searching for SEs in T cells, immune cells known to play an important role in rheumatoid …
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.
… work together at many different levels - from organs to cells to genes. From both inside and outside the body, cells are constantly receiving chemical cues prompted by such … or lack of food. To react and adjust to these cues, cells send and receive signals through biological pathways. …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells. … Mosaicism refers to the presence of cells in a … or the addition or loss of a chromosome. The condition can stem from a genetic error that occurs after fertilization of …