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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
Educational Resources
The zebrafish is a member of the minnow family of fish.
… is a member of the minnow family of fish. … Animal Model, Gene, Transgenic, Candidate Gene, Genetic Engineering, Knockout … The zebrafish is a …
Educational Resources
An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes.
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 …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… ago. One of the genes on the Y chromosome is the SRY gene . The protein produced by this gene turns on a set of other genes that cause the embryo to … certain sex characteristics, such as testes. If the SRY gene doesn’t produce a functional protein, the embryo will …
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
… … There are three different types of artificial cloning: gene cloning, reproductive cloning and therapeutic cloning. Gene cloning produces copies of genes or segments of DNA. … creating tissues to replace injured or diseased tissues. Gene cloning, also known as DNA cloning, is a very different …
Educational Resources
Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… clotting. … Hemophilia, Blood Clotting, X Chromosome, Gene, Mutation … Hemophilia is an inherited disease, most … by a deficiency in blood clotting. The responsible gene is located on the X chromosome, and since males inherit … the X chromosome, if that chromosome carries the mutated gene then they will have the disease. Females have a second, …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… help a researcher or clinician identify where a particular gene falls within an individual's chromosomes. The first step … of single-stranded DNA that match a portion of the gene the researcher is looking for. These are called probes. … useful when scientists have isolated a small portion of a gene and want to determine on which chromosome the gene is …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… fluctuations in the frequency of a particular version of a gene (allele) in a population. Though it primarily affects …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
Educational Resources
Microarray technology is a general laboratory approach that involves binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.”
… in research and clinical studies, such as measuring gene expression and detecting specific DNA sequences (e.g., …