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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
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… Because the artificial DNA is inactive, bearing only a genetic tag, or "reporter gene," designed for use in … a random process, certain genes may never get hit due to statistics or because the gene is not active in ES cells, …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… testing is for those who have a family member with a genetic disorder. The results help to determine a person’s … testing is used to confirm or rule out a suspected genetic disorder. The results of a diagnostic test may help … tests for the biological father and mother to see what genetic variants they carry. The tests can help parents and …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… months, followed by a three-month rotation at ASHG. "As a genetic counselor, Cari will bring a valuable lens to her … PPAB. Ms. Young recently earned her master of science in genetic counseling from The Johns Hopkins University/NHGRI Genetic Counseling Training Program in Baltimore, Maryland. …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… in diagnosing patients, especially those with unresolved genetic conditions.” Until recently, that goal was hard to …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… to whom, when genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to … that genome sequencing may reveal unexpected disease or genetic variants whose effect is unknown. Because of their … noted that some pediatricians may feel unable to deal with genetic and genomic issues because of inadequate training. In …
Your Genome
Information about the relationship between genomics and health for patients, families and health professionals.
… Going beyond family health history … Genetic conditions can be difficult to understand and raise … resources will help you find detailed information about genetic disorders, the new science of pharmacogenomics, and … … Your family's health history can help you discover your genetic heritage and risks, and guide you in making healthy …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración científica del genoma.
… Ley Antidiscriminatoria sobre Información Genética ( Genetic Information Nondiscrimination Act , GINA) que prohíbe …
Educational Resource
A step-by-step printable guide for folding a transfer RNA (tRNA) paper model.
… on tRNA see NHGRI’s Talking Glossary of Genomic and Genetic Terms . … Instruction Sheet … Step-by-step …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… with non-European ancestries. Including persons of diverse genetic ancestries in the development of future …
Policy Issues
Hay leyes y políticas que sirven para proteger la privacidad de la información genómica de un individuo.
… la Ley Antidiscriminatoria sobre Información Genética ( Genetic Information Nondiscrimination Act , GINA) para …