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Allele:
An alternative form of a given gene that occupies a corresponding
position on each of our two chromosomes, one of which was inherited
from each parent.
Amino Acid:
Any of the 20 subunits that are the basic building blocks of
proteins. The sequence of amino acids in a protein and, hence,
the function of a protein are determined by the genetic code.
Base pair: The
basic units of DNA, base pairs are chemical structures made up
of the chemicals adenine, thymine, guanine and cytosine, which
are designated by the letters A, T, G and C, respectively. Adenine
always pairs with thymine and guanine always pairs with cytosine,
creating the pairs or nucleotides in which genetic information
is found. In RNA, uracil (U) substitutes for thymine.
Bioassay: Any
procedure or test used to determine the nature, activity, location
or retention of analytes in the body or system by direct (in vivo)
measurement or by in vitro analysis of material excreted or otherwise
removed from the body or system.
Bioinformatics:
The science that uses advanced computing techniques for
management and analysis of biological data. Bioinformatics is
particularly important as an adjunct to genomic research, which
generates a large amount of complex data, involving billions
of individual DNA building blocks, and tens of thousands of genes.
Cell: The smallest
structural unit of living organisms that is able to grow and reproduce
independently. Basic unit of any living organism. It is a small,
watery compartment filled with chemicals and a complete copy of
the organism's genome.
Cell-based Assays:
Any assay in which cells are used in conjunction with a test compound(s)
or analyte(s). Cell-based assays are becoming increasingly important
in high through-put screening (HTS). These assays allow for the
ability to track the behavior of individual cells over time, and
permit data gathering on functional behavior not available in
any other kind of assay.
Chromosome:
Composed of a long coiled strand of DNA covered with protein.
Each individual has 23 pairs of human chromosomes and, therefore,
a total of 46 chromosomes.
Coding region:
The part of a gene that specifies the structure of a protein.
Codon: A sequence
of three nucleotide bases that specifies an amino acid or represents
a signal to stop or start a function.
Cytokines:
A vast array of relatively low molecular
weight, pharmacologically active proteins that are secreted by
one cell for the purpose of altering either its own functions
(autocrine effect) or those of adjacent cells (paracrine effect).
Examples included the interleukins, TNF-a, etc.
Deconvolution:
A mathematical technique for solutions of functions whose input
includes their output; used to solve for the image elements in
Applied Spectral Imaging's multiplexing technologies.
DNA (deoxyribonucleic
acid): A double stranded molecule, called a double helix,
which contains genetic instructions in the form of genes. The
helix consists of a sugar-phosphate backbone with chemical bases
that extend from the backbone. There are four different bases
in DNA: adenine (A), thymine (T), guanine (G) and cytosine (C).
The bases on one strand can only pair with a specific base on
the other strand. A always pairs with T and G always pairs with
C.
Evolution:
In biological terms, a change in the genetic composition of a
population over time.
Evolutionary Distance:
In phylogenetic trees, the sum of the physical distance on a
tree separating organisms. This distance is inversely proportional
to evolutionary relatedness.
Exons: Segments
of a gene on genomic DNA that contain the instructions for making
a protein.
Gene: A
unit of heredity that occupies a particular position on the DNA
molecule in a chromosome; a segment of DNA containing all of
the information necessary to make proteins.
Genetic Code:
The sequence of nucleotides, coded in triplets (codons) along
the messenger RNA (mRNA) molecule that determines the sequence
of amino acids in a protein. The DNA sequence of a gene can be
used to predict the mRNA sequence, and the genetic code can in
turn be used to predict the amino acid sequence of a protein.
Genetic Map:
The relative location of genes on a linear map of the DNA that
is present in a chromosome.
Genetic Marker:
Genomic information that is defined by measuring some inherited
trait of an organism. The position of this genomic information
can be mapped to a specific region on a chromosome by following
the pattern of inheritance of this trait versus that of other
inherited traits.
Genetic Testing:
The analysis of an individual's genetic material. Among the purposes
of genetic testing could be to gather information on an individual's
genetic predisposition to particular health condition, or to
confirm a diagnosis of genetic disease.
Genetics:
The study of heredity: how biological information is transferred
from one generation to the next as well as how that information
is expressed within an organism.
Genome:
The total genetic content of an organism, comprising genes and
all other DNA sequences. Only about 4-5% of the human genome
is estimated to constitute gene information. The function of
the remaining DNA is unclear, but some of it is likely to have
a role in maintaining the stability of the genome.
Genomic DNA:
The basic chromosome set consisting of a species-specific number
of linkage groups and the genes contained therein.
Genomics:
The comprehensive analysis of all the genes of an organism.
Genotype:
The genomic composition or specific sequence of nucleotides of
an organism that is responsible for causing a specific trait
or phenotype.
Haplotype:
The nucleotides present at all of the known polymorphic sites
in a gene; also a set of closely linked genes that are inherited
together.
Human Genome Project:
An ongoing, global research effort aimed at mapping and decoding
the complete human genome.
Immunoassay:
A process that measures and identifies a specific biological substance
such as an antigen.
Inheritance:
The passing on of genetic material from parents to offspring.
Informatics:
Storing, manipulating, analyzing and visualizing information
on a computer.
In silico:
A process that is completed entirely by the use of a computer.
In vitro:
Literally, "in glass." Performed in a test tube or
other laboratory apparatus.
In vivo: In the
living organism.
Interferometry:
The branch of science devoted to the study and measurement of
the interaction of waves, such as electromagnetic waves and acoustic
waves. In the case of ASIs platform technology, interferometric
techniques are to measure the intensity of light within a given
sample. Many of these measurements together produce an interferogram
that is then converted to a spectrum using Fourier Fast Transformation
(FFT) algorithms.
Intron:
The DNA base sequences that interrupt the protein-coding sequences
of a gene on genomic DNA. These sequences are transcribed into
RNA and are cut out of the messenger RNA (mRNA) before it is
translated into a protein molecule.
Kinase: An
enzyme that can transfer a phosphate from a high-energy phosphate
such as ATP, to an organic molecule.
Linkage: The
proximity of two or more genes on a chromosome. The closer together
the genes are, the greater the probability that they will be inherited
together or show linkage. Linkage Disequilibrium: A measure of
the degree of association between two alleles in a population.
Measures of linkage disequilibrium quantify how frequently two
alleles are found on the same chromosome in a certain population.
Linkage Disequilibrium:
A measure of the degree of association between two alleles in
a population. Measures of linkage disequilibrium quantify how
frequently two alleles are found on the same chromosome in a
certain population.
Linkage Map:
A map showing the relative positions of known genes on the chromosome.
The distance between genes is measured in centimorgans (cM).
Linked Genes (linked
markers): Genes and/or markers that are so closely associated
on a chromosome that the allelic forms found on a chromosome
are inherited together by a progeny at least 80% or more of the
time.
Locus: The
position of a gene on a chromosome.
Messenger RNA (mRNA):
RNA that serves as a template for protein synthesis.
Microarray:
An assay in which large numbers of 'test experiments' can be conducted
on a single spot (in the case of ASIs multiplexing platform).
Arrays are often manufactured on glass slides with a high density
of test spots used to increase throughput and parallel processing
of samples.
Microtiter Plate:
A plate, often made of polystyrene, containing sample wells that
is used for conducting assay testing. While plate size is generally
fixed, well number (such as 96 and 384) may vary depending on
assay needs.
Multiplexing:
The ability to separate, identify, and quantitate multiple dyes/events
in a single geographical location be it on a microarray, microtiter
plater, cellular preparation (live or fixed), or any fixed assay
platform.
Mutation:
A permanent structural alteration in DNA that can be transmitted
from one generation to the next. Changes in DNA either have no
effect or cause harm. Occasionally a mutation can improve an
organism's chance of surviving and passing the beneficial change
on to its descendants.
Nucleotide:
A subunit or base of DNA or RNA made up of adenine (A), guanine
(G), thymine (T), or cytosine (C) for DNA; A, G, uracil (U),
or C for RNA, along with a phosphate molecule, and a sugar molecule
(deoxyribose in DNA and ribose in RNA). Thousands of nucleotides
are linked together to form a DNA or RNA molecule.
Phenotype:
A set of observable physical characteristics of an individual
organism. A single characteristic can be referred to as a "trait,"
although a single trait is sometimes also called a phenotype.
For example, blond hair could be called a trait or a phenotype,
as could obesity. A phenotype can be the result of many factors,
including an individual's genotype, environment, and lifestyle,
and the interactions among these factors. The observed manifestation
of a genotype, a phenotype may be expressed physically, biochemically,
or physiologically.
Polymerase Chain
Reaction (PCR): A method for creating millions of copies
of a particular segment of DNA. If a scientist needs to detect
the presence of a very small amount of a particular DNA sequence,
PCR can be used to amplify the amount of that sequence until
there are enough copies available to be detected.
Polymorphism:
Differences in DNA sequences that occur naturally in a population.
Single nucleotide substitutions, insertions and deletions of
nucleotides and repetitive sequences (microsatellites) are all
examples of polymorphism. The position at which such a sequence
difference is found is a polymorphic site. A single nucleotide
substitution is called a single nucleotide polymorphism or a
SNP.
Population Genomics:
The convergence of high-throughput analysis of genomic variation
with population genetics to address the genomic basis of clinical
variation.
Pharmacogenetics:
The study of genetic factors that influence an organism's reaction
to a drug. These genes include those that encode drug metabolizing
enzymes, drug receptors and drug transporters.
Pharmacogenomics:
The identification and analysis of genomic variations that will
impact the efficacy of drugs or reveal different targets.
Phylogeny:
The evolutionary history of a particular taxonomic group.
Protein: A large
molecule composed of one or more chains of amino acids in a specific
order; the order is determined by the base sequence of nucleotides
in the gene coding for the protein. Proteins are required for
the structure, function, and regulation of the body's cells, tissues,
and organs, and each protein has unique functions. Examples are
hormones, enzymes, and antibodies.
Proteomics:
Proteomics has many definitions depending on the level of analysis.
One definition of proteomics is the quantification of all proteins
expressed at any individual time in a cell. Functional proteomics
may be defined as the determination of the function of all the
proteins encoded by an organism's entire genome. Structural proteomics
is the determination of the structures of proteins, which may
have multiple functions that can only be identified in the context
of their interactions with other proteins, DNAs, small molecules,
cofactors, etc.
RNA (ribonucleic acid):
A single-stranded nucleic acid containing the bases adenine (A),
cytosine (C), guanine (G) and uracil (U) and having an important
role in protein synthesis and other chemical activities of the
cell. There are several classes of RNA molecules, including messenger
RNA, transfer RNA, ribosomal RNA, and other small RNAs, each serving
a different function.
Single-to-noise Ratio:
Often written S/N or SNR, is a measure of signal strength relative
to background noise.
Single Nucleotide
Polymorphism (SNP): Polymorphisms are differences in the
genomic DNA sequences that naturally occur in a population. A
single nucleotide substitution is called a single nucleotide
polymorphism or a SNP.
SNP Map: A collection
of SNPs that can be superimposed over the existing genome map,
creating greater detail, and facilitating further genetic studies.
(SNP consortium)
Spectral Imaging:
The combination of spectrometry and CCD-imaging. CCD-imaging produces
a finely detailed monochrome image of an object. Spectrometry
measures the spectrum of selected areas on the object and then
displays each spectrum as a separate graph. When the two technologies
are combined, there is no separation between the image and the
spectral information. The image itself contains the spectral information
for each point in the image.
Spectrum: the
complete range of the wavelengths of electromagnetic radiation,
beginning with the longest radio waves (including those in the
audio range) and extending through visible light (a very small
part of the spectrum) all the way to the extremely short gamma
rays that are a product of radioactive atoms. The visible spectrum
resides between 400 Ð 700 nm.
Transition:
A mutation from G to A or A to G (purine to purine) or C to T
or T to C (pyrimidine to pyrimidine). In coding DNA, transitions
are more likely to conserve the sequence of the resulting protein
molecule.
Transversion:
A mutation between A to C or C to A, G to T or T to G, A to T
or T to A, G to C or C to G (purine to pyrimidine or pyrimidine
to purine).
Waveform: The
representation of a signal as a plot of amplitude versus time.
Wavelength:
The distance between identical points in the adjacent cycles of
a waveform signal propogated in space.
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