Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… causes low levels of, or no, alpha-1 antitrypsin in the blood. … Alpha-1 antitrypsin deficiency (AATD) is an … low levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. … liver disease can include a swollen abdomen, coughing up blood, swollen feet or legs, and yellowing of the skin and …
Educational Resources
Cytoplasm is the gelatinous liquid that fills the inside of a cell. It is composed of water, salts, and various organic molecules.
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.
Educational Resources
Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… affecting males, that is characterized by a deficiency in blood clotting. … Hemophilia, Blood Clotting, X Chromosome, Gene, Mutation … Hemophilia is … affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located on the X …
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 …
Educational Resources
Northern blot is a laboratory technique used to detect a specific RNA sequence in a blood or tissue sample.
… technique used to detect a specific RNA sequence in a blood or tissue sample. … Northern Blot, Laboratory … purified RNA fragments from a biological sample (such as blood or tissue) are separated by using an electric current … technique used to detect a specific RNA sequence in a blood or tissue sample. … Educational Resources …
Educational Resources
Southern blotting is a laboratory technique used to detect a specific DNA sequence in a blood or tissue sample.
… technique used to detect a specific DNA sequence in a blood or tissue sample. … Deoxyribonucleic Acid (DNA), … purified DNA from a biological sample (such as blood or tissue) is digested with a restriction enzyme(s), … technique used to detect a specific DNA sequence in a blood or tissue sample. … Educational Resources …
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 …