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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
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- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 …
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 …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… of such DTC genomic testing is for revealing family ancestry or genealogy [see Human Origins and Ancestry ]. For … out that family members who they previously thought were genetic relatives were actually not biologically related  to … the information from the test? Will you want to speak to a genetic counselor or a healthcare provider about the test …
For Teachers
The Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our lives.
… of the Institute, explore the social implications of genetic research, and explain genetic concepts and research techniques.  NHGRI Talking Glossary of Genetic Terms (In English and Spanish) The Talking Glossary …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … A … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one generation to the … Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… the risk to newborns that the identification of specific genetic variants , such as a predisposition to a disease, … the presence of disease biomarkers. … Newborn Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes … Newborn screening …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals with known or suspected genetic diseases, including metabolic diseases. You can read …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when they are unable to find a diagnosis … entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals of all ages (despite its title) with known or suspected genetic diseases. You can read about this study by going to …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
…  Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … to using and developing drugs. Depending on your genetic makeup, some drugs may work more or less effectively …