Genomics Glossary

1000 Genomes Project


Acrida conica

scientific name for grasshopper

Adenosine triphosphate (ATP)

a chemical that supplies energy for many biochemical cellular processes


a sequence of instructions/actions to solve some problem


a variant form of a gene

Alzheimer's disease

a progressive disorder that causes mental deterioration

amino acid

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

balanced translocation

a translocation where no genetic material is gained or lost in the cell, a person typically will be unaffected

base pairs (bp)



a gene that encodes the component of hemoglobin. A point mutation within this gene causes Sickle Cell Disease









Bowl of Spaghetti model

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 gene that can cause breast cancer if it is mutated


a unit of memory size


the weight of a genome




a thread of nucleosomes that is looped and packaged by proteins into tightly packed chromosomes during DNA replication


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

Chromosome Territory model

model that depicts that each uncondensed chromosome (not going through cell division) occupies a specific space and only overlaps with its neighbors. An experiment in the 1980s by Thomas and Christoph Cremer supported this model.


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

complementary strands (of DNA)

two single opposing stands of DNA that bind as a result of base pairing throughout their full length

coverage plot

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.

Cystic Fibrosis


Cystic Fibrosis Transmembrane conductance Regulator (CTFR)




deoxyribonucleic acid (DNA)



an organism or cell that contains paired chromosomes. The set consists of one chromosome from each parent.

DNA barcoding

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

DNA fingerprinting

a technique of utilizing differences in DNA (polymorphisms) to identify an individual

DNA polymerase

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

DNA Sequencing

“Reading” the DNA molecule to determine the sequence of the letters


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

ELSI (Ethical, Legal and Social Implications Research Program )

A group within the National Institute of Health's human genome institute whose goal is to foster basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities.

embryonic stem cell (ESC)



cells that contain membrane-bound organelles, especially the nucleus


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.


the pieces of RNA that we keep in the final messenger RNA molecule to code for proteins

flow cell

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


a unit of DNA that controls specific traits

gene chippers

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.

gene expression


gene ID

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

gene ontology (GO)


gene quantification

counting the number of reads we have assigned to each gene

genetically modifying foods

foods in which the DNA has been altered in a way that does not occur naturally or by artificial selection


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


all the DNA in an organism

genome browser (GBrowse)

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 principal taxonomic category that ranks above species. It is denoted by a capitalized Latin name and usually includes more than one species.


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


a protein inside red blood cells that carries oxygen. A single point mutation within the beta-globin gene (which encodes a component of hemoglobin) can cause the hemoglobin protein to change shape which, in turn, causes Sickle Cell Disease by causing the red blood cell to take the shape of a sickle.

hip dysplasia

a hip joint structural problem


proteins molecules that DNA is wrapped around

HIV (Human Immunodeficiency Virus)

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.

Huntington's Disease



an educated guess that can be tested

immune system

the body's natural defense system

intergenic region

region in DNA where no known genes exist


the pieces of RNA that are removed from final messenger RNAs (these segments are not used to code for proteins)


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


a visual tool that scientists use to profile and then analyze chromosomes in a sample of cells

kilobase (Kbs)

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


a protein that phosphorylates (adds a phosphate group) other proteins

locus (plural loci)


log base 2 scale

log2(x) means the power you have to raise 2 to get x (i.e. 22 = 4, so log2(4) is 2)


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


a mosquito-carried disease that targets blood cells

megabase (Mb)

1 million base pairs


Sequencing reads that align to multiple locations

multiple sclerosis (MS)



alterations in the DNA




a unit that consists of a loop made of DNA and histones




a membrane bound structure in a cells that contains DNA

omics datasets


paired-end reads

two reads that were sequenced from opposing ends of the same molecule. See paired-end sequencing.

paired-end sequencing

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

parallel sequencing

any of several high-throughput and next-generation sequencing approaches to DNA sequencing that are able to process a very large number of sequencing reactions at the same time




an organism that exploits a host organism at the host's expense


observable traits

picogram (pg)

10-12 grams

point mutation

a mutation in one nucleotide in a gene sequence

polymerase chain reaction (PCR)

A laboratory method using DNA polymerase [also in glossary] to make copies of DNA molecules.


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


short nucleotide sequences that serve as a starting point for DNA synthesis. They are required for DNA replication because DNA polymerase can only add nucleotides to an existing DNA strand.



programming language

a formal syntax to communicate instructions to a machine


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


large complex molecules that perform many critical roles for an organism to function

read alignment, read mapping

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



reference genome



the act of replacing something that was lost

reverse transcriptase

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

ribonucleic acid (RNA)


RNA sequencing (RNA-seq)


RNA splicing

The process of editing messenger RNA during transcription through removal of introns. Exons are joined together through a process called ligation.

sequence motif



The process of determining the order of nucleotides that makes up DNA or RNA

sequencing adapters

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.

sequencing reads

a list of short nucleotide sequences (100-200 letters, or base pairs (bp)

Sickle Cell Disease


single-end reads

reads that were sequenced from only one end of the molecule (as opposed to paired-end reads)

somatic mutation


spatial indexing

a technique used in next-generation sequencing machines that uses the position of strings of DNA on the flow cell to help sequence the strings more quickly


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.


different variations of messenger RNA that are produced by the same gene; which specific spliceforms and how much of each type are produced from a gene can change what is translated into proteins; having "alternative spliceforms" is a way a single gene can respond to different biological situations by producing different products using the same string of DNA sequence.


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

stem cells



a sequence of one or more letters

synthetic biology

an area of research that studies ways to design and build novel biological pathways, organisms, systems, or devices, as well as ways to redesign existing natural biological systems for useful purposes.


the life stage of Toxoplasma when it infects humans


a functional genomic online database for organisms that causes disease in humans and animals

Toxoplasma gondii

a unicellular eukaryotic parasite


a disease caused by Toxoplasma infection




part of a chromosome is transferred to a non-homologous chromosome


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


a sequence consisting of three nucleotides

type I diabetes


unbalanced translocation

when a chromosome with extra or missing genetic material is inherited from a parent with a balanced translocation  which can lead to genetic disorders


an adjective to describe a single-celled organism


untranslated 5’ and 3’ regions in genes that are made into RNA but do not get translated like the protein coding section of the gene