Glossary

Allele

One of any number of variations of the same gene.

Bioethics

The study of ethical, legal, policy and social issues as they relate to new biological discoveries and biomedical advances.

Bioinformatics

A field of research that focuses on the mining, analysis and interpretation of genomic, proteomic and metabolomic data for the discovery of genetic and molecular variants that play roles in diseases.

Biomarker

A molecular substance that may be used to detect or classify disease, determine disease prognosis, or predict someone's response to a medication. The process by which medically relevant biomarkers are found is called biomarker discovery.

Biorepository

A collection of biological samples — such as tissue, blood, plasma, serum, urine, DNA, RNA and live cells — that are linked with clinical data from a patient's electronic medical record. Also known as a biobank.

Chromosome

The biological packaging system for storing and regulating DNA. Chromosomes are particularly important in heritability because they are the main storage and transportation system for the genetic material that contain most biological instructions. The typical human has 23 chromosomes. Most take an X shape, except for the male sex-linked Y chromosome.

Clinomics

The study and application of genomic, proteomic and metabolomic data within the context of patient care.

DNA

Short for deoxyribonucleic acid, DNA is the complex molecule that contains the basic instruction sets for most known forms of life, including humans. It typically takes the familiar coiled, or "double helix," ladder shape.

Epigenomics

The study of how mechanisms other than changes in the underlying DNA sequence, such as the environment, can result in inherited changes in appearance (phenotype) or gene expression.

Exome

The collection of exons, which are relatively small lengths of a whole genome and contain instructions for the body to build proteins — the building blocks that make up just about every type of tissue and fluid in the body. Exons account for about 1 percent of an entire genome but are thought to account for most inherited disorders.

Gene

A working subunit of DNA that contains the instructions for assembling proteins. The exact number of genes in the typical human is unknown, but the National Human Genome Research Institute estimates there are anywhere from 20,000 to 25,000 in the average human genome.

Genome

The complete set of genes or genetic material present in a cell or organism.

Genome-wide association study

A study that compares the whole genomes of study participants to find genetic variations associated with a particular disease.

Genomics

The branch of molecular biology relating to the structure, function, evolution and mapping of genomes.

Genotyping

A type of testing that reveals the specific variants of a gene inherited by a person. It's particularly useful in situations where more than one genotypic combination can produce the same symptoms or disease.

Individualized medicine

The personalization and customization of health care, with decisions and treatments tailored to each individual patient in every way possible. Also known as personalized medicine.

Metabolomics

The measurement and study of small molecule metabolites in biological systems. Metabolites are molecules in the body that are involved in chemical reactions or metabolism.

Microbiome

The totality of microbes and their genetic elements (genomes) and environmental interactions in a defined environment, such as the gut or mouth.

Next Generation Sequencing (NGS)

Massively parallel high-output sequencing of nucleic acids, enabling cost-effective analysis of large numbers of target sequences in a single experiment.

Personalized medicine

See individualized medicine.

Pharmacogenomics

The study of how a person's unique genetic makeup influences his or her response to medications.

Proteomics

The analysis and identification of protein structure and function.

Single nucleotide polymorphism (SNP)

Occurs when a single letter in an organism's genome differs between two members of the same species.

Whole-exome sequencing

A laboratory process that determines, all at once, the entire unique sequence of an organism's exome. Sometimes also called "exome capture."

Whole-genome sequencing

A laboratory process that determines, all at once, the entire unique DNA sequence of an organism's genome.