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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, …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… (Organización Nacional para Enfermedades Raras) y la Genetic Alliance (Alianza Genética). … ¿Qué es una enfermedad …
For Patients and Families
Las pruebas genéticas usan métodos de laboratorio para estudiar sus genes. ​
… la Ley Antidiscriminatoria sobre Información Genética ( Genetic Information Non-discrimination Act , GINA) para … GINA, consulte la página http://www.genome.gov/10002328/genetic-discrimination-fact-sheet/ ). Limitaciones de las …
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 …
Fact Sheets
El mapeo genético ofrece evidencias de que una enfermedad que se transmite de padres a hijos está ligada a uno o más genes y proporciona pistas sobre qué cromosoma contiene el gen y cuál es la ubicación exacta del gen en ese cromosoma.
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… these molecules perform their unique roles. DNA is the genetic material for all life, usually existing in long … has the appropriate amount of each protein. … RNA can be genetic material While DNA is the genetic material for all life, some viruses use RNA as their …
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… y privado, la Red de Información de Asociación Genética ( Genetic Association Information Network , GAIN), para …
Fact Sheet
A fact sheet detailing how the project began and how it shaped the future of research and technology.
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… with facial analysis AI programs to accurately identify genetic disorders . Using machine learning techniques to …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… target for the immune system to recognize and attack. The genetic sequence is then optimized for the vaccine based on …