Primer on Genetics

Glossary of Terms

bioinformatics- an interdisciplinary field that develops methods and software tools for understanding biological data. As an interdisciplinary field of science, bioinformatics combines computer science, statistics, mathematics, and engineering to study and process biological data.

biotechnology- the use of living systems and organisms to develop or make products, or “any technological application that uses biological systems, living organisms or derivatives thereof, to make or modify products or processes for specific use” (UN Convention on Biological Diversity, Art.

CRISPR-Cas9– stands for Clustered Regularly Interspaced Palindromic Repeats; tool developed in 2012 used for genome editing. The process is based on naturally occurring bacterial defense mechanisms that recognize and cut up genetic sequencing from invading viruses.

DNA- Deoxyribonucleic acid is a molecule that carries most of the genetic instructions used in the development and functioning of all known living organisms and many viruses.

ENCODE- Encyclopedia of DNA Elements seeks to build a comprehensive parts list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active.

epigenetics- heritable changes in gene expression (active versus inactive genes) that does not involve changes to the underlying DNA sequence; a change in phenotype without a change in genotype.

genetics- the study of genes, heredity, and genetic variation in living organisms. It is generally considered a field of biology, but it intersects frequently with many of the life sciences and is strongly linked with the study of information systems.

genomics- a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes (the complete set of DNA within a single cell of an organism).

Human Genome Project– an international scientific research project with the goal of determining the sequence of chemical base pairs which make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and functional standpoint.

immunogenomics– the use of the tools of genomics to study human immune cells, and to define the mechanism by which immune-related diseases damage the body.

metabolomics- the scientific study of the set of metabolites present within an organism, cell, or tissue.

microarray- a multiplex lab-on-a-chip. It is a 2D array on a solid substrate (usually a glass slide or silicon thin-film cell) that assays large amounts of biological material using high-throughput screening miniaturized, multiplexed and parallel processing and detection methods.

microbiome– the microorganisms in a particular environment (including the body or a part of the body).

sequencing– the process of determining the order of nucleotide bases (A,C,T, and G) within a stretch of DNA. Sequencing the entire complement of DNA, or genome, of many animal, plant, and microbial species is indispensable for basic biological and medical research.