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- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… Markers … Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different … DNA Sequence … Ancestry-informative markers are sets of polymorphisms for a particular DNA sequence that appear in … between populations from different geographical regions of the world. Ancestry-informative markers can be used to …
Data Sharing Policies
Sample informed consent language, aligned with each of the informational elements of consent for genomic data sharing (GDS) outlined by NIH as important to convey, in language understandable to prospective participants.
… encourages the broadest appropriate future use and sharing of genomic and phenotypic data.  Example 1: Consent for … (GRU)  Portions of your samples, genomic data, and health information will be stored for an unlimited period of time to … (HMB)  With your consent, we will share the information you give us with a national database for DNA …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional … between a healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic … an individual or family. A genetic counselor might provide information about how a genetic condition could affect an …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for … Family Health History … Genetic testing is the use of a laboratory test to examine an individual’s DNA for …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively new medical discipline … factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, … Genetic Disease … Genetic epidemiology is a field of science focused on the study of how genetic factors …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… Jeannine Mjoseth … In a new National Institutes of Health (NIH) survey, most pregnant women wanted … from their doctors when deciding what types of information to receive from prenatal whole genome sequencing. … mutations across the genome, the entire set of genetic instructions found in a cell. Non-invasive prenatal …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… Genetic Engineering … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite … Interest A Curriculum Vitae (CV) Graduate/Doctoral degree information Academic transcripts (including FAES, if …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family … results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a known physical … Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose … location is known. The genetic marker itself may be a part of a gene or may have no known function. … A genetic marker …