Genomics Glossary

a chemical that supplies energy for many biochemical cellular processes

a variant form of a gene

organic compounds which are the basic building blocks that make up proteins. DNA and RNA encode amino acid information for protein synthesis via codons

a general term for a group of complex disorders of brain development

Paired nucleotides that make up DNA and RNA. Following specific hydrogen-bonding patterns, DNA has adenine(A)-thymine(T) and guanine(G)-cytosine(C) base pairings. Similarly, RNA has adenine-uracil(U) and guanine-cytosine base pairings

the variety and variability of living things in the world or in a particular habitat or ecosystem

scientists with multidisciplinary training in computer science and biology who are equipped to answer important biological questions based on analyzing and interpreting huge biological-based datasets

model that depicts that uncondensed chromosomes (not going through cell division) are randomly entangeled in the nucleus. An experiment in the 1980s by Thomas and Christoph Cremer did not support this model.

a unit of memory size

a disease caused by an abnormal cells dividing uncontrollably in a part of the body

a single molecule of DNA that is highly organized (by proteins) when cells divide. When cells are not dividing, this single molecule of DNA is less structured

a sequence of three DNA or RNA nucleotides (trinucleotide) that corresponds with a specific amino acid or stop signal during protein synthesis

A plot where the RNAseq data is displayed graphically. The more sequence reads you have in a region the higher the plot is.  More RNA sequence reads means more gene expression.

A protein that functions as channel for movement of chloride ions in and out of cells. In other words, this protein regulates a balance between salt and water on epithelial surfaces, such as in the lung or pancreas.

the molecule that encodes the information for all the characteristics or traits about an organism

using a DNA segment of the genome to identify the sequence belonging to a particular species

a protein enzyme that helps synthesize new strings of DNA by copying an existing string

description of an allele which can express its phenotype independent of whether the allele on the homologous pair is identical or not

a type of stem cell that is pluripotent, meaning they are able to specialize into any cell type that makes up the human body. ESCs are derived from the undifferentiated inner mass cells of a human embryo and have stemmed complicated ethical questions in science.

a collection of all the protein-coding sequences (exons) found in the genome. This is the part of the human genome we understand best, but the exome only makes up about 2% of the entire genome.

a special glass plate that is a little larger than a microscope slide, which is used to attach DNA or cDNA (made from RNA) samples to sequence them in next-generation sequencing machines

Robots that are fed thousands of seeds to report each seed's genetic information for plant breeding purposes.  The robots chip off a part of each seed (a part that will not kill the seed), extract DNA from the plant material, perform DNA analysis, and report the results via a database.

a unique sequence of numbers and/or letters (similar to a social security number) to identify a gene

counting the number of reads we have assigned to each gene

the study of genes and genetic variation and how specific traits or characteristics are inherited from parents to offspring

an interactive interface that displays and offers access to genomic data (similar to google maps but for genomes)

an individual's collection of genes. The term also can refer to the two alleles inherited for a particular gene. The genotype is expressed when the information encoded in the genes' DNA is used to make protein and RNA molecules. The expression of the genotype contributes to the individual's observable traits, called the phenotype.

a cell or organism that contains only a single set  of unpaired chromosomes

a hip joint structural problem

a virus that attacks the immune system

term to describe chromosomes that are chomosome pairs. Of the pair, one chromosome comes from the mother and the other is from the father. They carry similar but not identical information.

an educated guess that can be tested

region in DNA where no known genes exist

a description of the number and appearance of chromosomes in the nucleus of a eukaryotic cell

a measure of DNA length. One kilobase equals 1000 bases or 1000 nucleotides.

the specific location and position on a chromosome of a gene's DNA sequence

A type of white blood cell in the immune system. Macrophages are responsible for "eating" and digesting cancer cells, microbes, and foreign materials.

1 million base pairs

a long-lasting and potentially disabling disease of the brain and spinal cord

a cell that carries messages between the brain and other parts of the body. It is also called a "nerve cell" and is the basic unit of the nervous system.

the basic structural units of nucleic acids such as DNA and RNA. They are made up of a nucleoside coupled to a phosphate group

informally refers to the data of some field of study in biology ending in -omics, such as genomics, proteomics or metabolomics; “omics” implies a large or genome-wide scale

a type of sequencing that obtains reads starting from opposing ends of the same molecule. The reads are output as paired-end reads.

the loss of the ability to move in part or most of the body

observable traits

a mutation in one nucleotide in a gene sequence

differences in DNA which can be used to identify individuals (eg. number of specific repeats within an intergenic region)

creating a sequence of instructions/actions from a fixed set of allowed instructions/actions to solve a problem

a section of DNA where RNA polymerase can bind to initate transcription

The entire process of taking sequencing reads and assigning them to specific locations in the genome

The entire genome sequence of the organism from which we collected our RNA samples

An enzyme that makes a cDNA copy of an RNA molecule. This enzyme was originally discovered in viruses.

a technique that reveals the presence and quantity of RNA in a biological sample at a given moment in time.

a particular string of nucleotides whose pattern is repeated at least once in a long string that is related to the function of a gene

Short pieces of DNA that attach a sequencing molecule to a sequencing flow cell via complementery base-pairing. These are required for a sequencing machine to recognize and read a molecule of DNA or cDNA.

a genetic disorder that causes red blood cells to take on a deformed sickle shape instead of their normal disk shape, leading to poor circulation, pain, and anemia (low blood cell count).

alterations in your DNA that happen after you are conceived (they are not passed on to you from your mother or father's DNA).

a group of living organisms that have many characteristics in common and are capable of exchanging genes or interbreeding. It is the principal natural taxonomic unit below a genus.

a biological machine made up of RNA and protein complexes which function to remove introns from a trascribed pre-mRNA and then ligate the exons together

a sequence of one or more letters

the life stage of Toxoplasma when it infects humans

a unicellular eukaryotic parasite

the process in which information in a strand of DNA is decoded into a messenger RNA molecule

jumping genes which make up about half of the human genome by weight

an autoimmune disease typically diagnosed in children and young adults where the body does not produce enough insulin, a hormone needed to allow sugar to enter cells to produce energy

an adjective to describe a single-celled organism