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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
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses. … Genetic …
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 … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … to treatments. … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage mapping - can offer …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. … screening and testing options are available, and, for some genetic conditions, what treatments are available. (See: …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … … of these side effects, since all people are different. Genetic research is helping us figure out how individual …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Announcements ( RFA-HG-20-048 and RFA-HG-20-049 )  Can a genetic counselor consultant fulfill the need to have a person with genetic counseling experience on the team? No, a person or persons with genetic counseling experience need(s) to be an integral part …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have … association studies (GWAS) reveal differences in apparent genetic effects across families and populations with …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits?  Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … Biology, Department of Integrative Biology, Department of Statistics University of California, Berkeley  Nivard, …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.