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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- 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
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… The sequence tells scientists the kind of genetic information that is carried in a particular DNA segment. For example, scientists can use sequence information to determine which stretches of DNA contain genes … National Human Genome Research Institute (NHGRI) Genome Technology Program and its Advanced DNA Sequencing Technology …
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​. ​
… de BiotecnologÃa ( National Center for Biotechnology Information , NCBI), una parte de la Biblioteca Nacional de … Información de Asociación Genética ( Genetic Association Information Network , GAIN), para financiar estudios de …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… associations are identified, researchers can use the information to develop better strategies to detect, treat and … to use such tools to provide patients with individualized information about their risks of developing certain diseases. The information will enable health professionals to tailor …
15 Ways Genomics Influences Our World
Genomics is establishing more robust methods for DNA-based forensic analyses.
… The National DNA Index  in the United States now contains information from over 16 million people and has been used to … (CODIS) in 1990. Today, a CODIS forensic profile combines information from analyzing 20 different STRs across the … crime , like hair color and eye color. The limits of this technology have been explored in an art installation  where …
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… out this network, the National Center for Biotechnology Information keeps track of what foods are linked to each … , as well as in human patients who got sick. These information sources have been crucial for lowering the impact …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… can provide options for those seeking further information about NIPT. The National Institutes of Health has …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… abbreviated G, A, T, and C), with the biological information encoded within DNA determined by the order of … costs in different situations. Below is summary information about: (1) the estimated cost of sequencing the … HGP's umbrella beyond human genome sequencing, including technology development, physical and genetic mapping, model …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… compare it to other commonly used treatments, and collect information that will allow the drug or treatment to be used … studies continue testing the drug or treatment to collect information about its effect in various populations and … to participate in a study, you must be given complete information about the study, known as "informed consent." …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… In addition, your doctor may become aware of new information that could be important to diagnosing your … of setting often have access to up-to-date testing and technology, a large group of other healthcare providers and … family members and members of the public with current information on clinical research studies. For example, the …