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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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.
… in relation to messenger RNAs, or mRNAs, which are a type of RNA that carries the information required for making … is a growing area of research.  Alternative splicing is a type of RNA splicing where different exons are included or … make proteins Messenger RNA, called mRNA for short, is the type of RNA responsible for carrying the instructions for …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to common, complex diseases, such as asthma, cancer, diabetes, heart disease and mental illnesses. … With the … inflammation might contribute so significantly to this type of blindness, which is called age-related macular … genetic variations that contribute to risk of type 2 diabetes, Parkinson's disease, heart disorders, obesity, …
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).
… study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically … diet and exercise plans to prevent or delay the onset of type 2 diabetes in people who carry genetic predispositions to …
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.​ ​
… common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, … out how individual people will respond to medicines. This type of research is called "pharmacogenetics" and … medicines. This can lead to serious side effects. This type of testing is being used to find the right dose of …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… person but a T in another person. SNVs are the most common type of genomic variation. A subtype of SNVs is called a … such a location on both chromosomes, such as with Person 2 and Person 3.  Another group of small genomic variants are … variants are more subtle (such as in hypertension and diabetes, where a genomic variant might contribute to the …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… able to use sequence data to identify the particular type of cancer a patient has. This enables the physician to … of common and complex diseases, such as heart disease and diabetes, and in inherited diseases that cause physical …
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.
… of more common disorders such as asthma, heart disease, diabetes, cancer, and psychiatric conditions.  … To produce …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… DNA contains the specific instructions that make each type of living creature unique. The term chromosome comes … may lead to serious problems. For example, in humans, one type of leukemia and some other cancers are caused by … conditions, including some forms of hearing impairment and diabetes, have been associated with DNA found in the …
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… a pathway, the result can be a disease such as cancer or diabetes. … There are many types of biological pathways. …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… have to report both bases of the pair. In the most common type of sequencing used today, called sequencing by … of specific diseases, such as cancer, or to look for the type of genetic mutations frequently seen in cancerous cells. … more complex diseases. These diseases, such as cancer, diabetes, and cardiovascular disease constitute the majority …