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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, Mutation, Recessive, Dominant … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… however, it occurs most often in whites of European ancestry. Alpha-1 antitrypsin (AAT) is a protein that is made … may be expressed, and both versions contribute to the genetic trait. The M gene is the most common allele of the … - National Library of Medicine Alpha-1 Association Genetic Counseling Service Alpha-1 Advocacy Alliance Alpha …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … Screening … Down syndrome (also called Trisomy 21) is a genetic condition caused by an error in the process that …
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
… biological entity. The copied material, which has the same genetic makeup as the original, is referred to as a clone. … identical DNA . Identical twins have nearly the same genetic makeup as each other, but they are genetically … one organism, often referred to as "foreign DNA," into the genetic material of a carrier called a vector. Examples of …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific … a variety of chromosomal abnormalities and other genetic mutations. … FISH is useful, for example, to help a … probes" to determine whether an individual is missing genetic material from a particular chromosome. Whole …
Educational Resources
A centimorgan (abbreviated cM) is a unit used to measure genetic linkage.
… Centimorgan (cM) … A centimorgan is a unit used to measure genetic linkage. … Linkage Analysis, Genetics, Chromosome, … (abbreviated cM) is a unit of measure for the frequency of genetic recombination. One centimorgan is equal to a 1% … … A centimorgan (abbreviated cM) is a unit used to measure genetic linkage. … Educational Resources …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) on a blood sample for changes in the … muscular dystrophy without performing a muscle biopsy. Genetic testing is constantly changing, but the methods …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… However, despite the relatively high prevalence of these genetic mutations in Ashkenazi Jews, only seven percent of … whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes. When someone … individuals may develop breast cancer whether or not a genetic mutation is present. … Given the limitations of …
Educational Resources
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.
… Founder Effect … The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony. … Genetic Variation, Population Genetics, Human Migration, … of new species. … The founder effect is the reduction in genetic variation that results when a small subset of a large …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a … of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra … An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another …