Genomics Terms Glossary: Genomics Terms in 2024
A
Alternative Splicing
Alternative splicing is a mechanism by which different combinations of exons in a pre-mRNA can be joined together during RNA processing, generating multiple mRNA transcripts from a single gene.
Annotation
Genome annotation is the process of identifying and labeling genes, regulatory elements, and other functional elements in a genome.
B
Bioinformatics
Bioinformatics is the field of science that combines biology, computer science, and information technology to understand and analyze biological data.
C
Chromatin
Chromatin is the complex of DNA, proteins, and RNA that make up the chromosomes within the nucleus of a cell.
Coding Sequence
A coding sequence is the part of the gene or DNA sequence that contains the instructions for building a protein.
Comparative Genomics
Comparative genomics is the study of the similarities and differences in genome structure and gene content across different species.
Copy Number Variation
Copy number variation (CNV) is a type of structural variation in the genome that involves the deletion or duplication of a segment of DNA.
Copy Number Variation (Cnv)
Copy number variation (CNV) refers to the presence of a variable number of copies of a DNA segment or gene across individuals.
Crispr
CRISPR technology is a revolutionary gene editing technique that allows researchers to easily modify DNA sequences and gene function.
Crispr-Cas9
CRISPR-Cas9 is a gene-editing technology that enables scientists to edit genes with high precision and accuracy.
D
Dna
Deoxyribonucleic acid (DNA) is a molecule that carries the genetic instructions for the development, functioning, growth, and reproduction of all known living organisms and many viruses.
Dna Methylation
DNA methylation is a biochemical process that involves the addition of a methyl group to the DNA molecule, which can affect gene expression and regulate cellular processes.
Dna Repair
DNA repair refers to the processes by which a cell identifies and corrects damage to its DNA molecules.
Dna Sequencing
DNA sequencing is the process of determining the precise order of nucleotides in a DNA molecule.
E
Epigenetics
Epigenetics is the study of changes in gene expression or cellular phenotype that do not involve changes to the underlying DNA sequence.
Epigenome
The epigenome is the set of chemical modifications to the DNA molecule that helps to determine gene expression and cellular identity.
Exome Sequencing
Exome sequencing is a method for selectively sequencing and analyzing the exons (coding regions) of genes in the genome.
F
Functional Annotation
Functional annotation is the process of assigning biological functions to genes based on their sequence, structure, or similarity to known genes.
Functional Genomics
Functional genomics is the study of how the functions of individual genes contribute to the structure and behavior of cells and organisms.
G
Gene
A gene is a sequence of DNA or RNA that encodes the instructions for building a molecule that has a function in the organism.
Gene Duplication
Gene duplication is a process in which a duplicate copy of a gene is created within the genome.
Gene Expression
Gene expression is the process by which information from a gene is used to create a functional gene product, such as a protein.
Gene Expression Atlas
A gene expression atlas is a collection of gene expression data across different tissues, developmental stages, or conditions, providing insights into gene function.
Gene Expression Profiling
Gene expression profiling is the measurement of the activity of thousands of genes simultaneously to create a global picture of cellular function.
Gene Expression Quantification
Gene expression quantification is the measurement of the amount of RNA or protein produced from a specific gene.
Gene Expression Regulation
Gene expression regulation refers to the control of gene activity to ensure that genes are expressed in the right cells, at the right time, and in the right amounts.
Gene Family
A gene family is a group of genes that share a common ancestral origin and usually have similar functions.
Gene Flow
Gene flow is the transfer of genetic material from one population to another through migration and interbreeding.
Gene Knockout
Gene knockout is a genetic technique used to disrupt the normal function of a gene to study its effects on the organism.
Gene Ontology
Gene ontology is a standardized system of describing gene products in terms of their associated biological processes, molecular functions, and cellular components.
Gene Regulation
Gene regulation is the process of turning genes on or off in response to environmental stimuli or developmental signals.
Gene Silencing
Gene silencing is the process of turning off a gene's expression, often through chemical modification of the DNA or RNA molecule.
Gene Therapy
Gene therapy is an experimental technique that uses genes to treat or prevent disease by introducing or modifying genetic material within a person's cells.
Genetic Algorithm
A genetic algorithm is a search heuristic inspired by the process of natural selection, often used in optimization and machine learning.
Genetic Counseling
Genetic counseling is a process that helps individuals or families understand and adapt to the medical, psychological, and familial implications of genetic contributions to health and disease.
Genetic Counselor
A genetic counselor is a health professional with specialized education and training in medical genetics and counseling who helps individuals and families understand and make decisions about genetic conditions.
Genetic Drift
Genetic drift is the change in the frequency of a gene variant (allele) in a population due to random sampling.
Genetic Engineering
Genetic engineering is the direct manipulation of an organism's genome using biotechnology techniques to modify its characteristics.
Genetic Screening
Genetic screening is the use of tests to look for a particular genetic condition or susceptibility to a genetic disorder before symptoms are present.
Genetic Testing
Genetic testing is the analysis of DNA, RNA, chromosomes, proteins, or metabolites to detect changes or mutations that may be associated with a genetic condition.
Genetic Variation
Genetic variation refers to the diversity of genetic material within a population and is the result of mutations, genetic recombination, and other processes.
Genome
A genome is the complete set of genetic material present in an organism.
Genome Assembly
Genome assembly is the process of reconstructing the complete DNA sequence of an organism's genome from fragmentary DNA sequences.
Genome Editing
Genome editing is the process of making specific changes to the DNA sequence of an organism using engineered nucleases, such as CRISPR-Cas9.
Genome-Wide Association Mapping
Genome-wide association mapping is a statistical method used to identify genetic variations associated with traits or diseases by analyzing data from a large number of individuals.
Genome-Wide Association Study
A genome-wide association study (GWAS) is a study that looks for genetic variations across the entire genome to determine if specific variations are associated with a particular trait or disease.
Genome-Wide Association Study (Gwas)
A genome-wide association study (GWAS) is an observational study that evaluates the relationship between genetic variations across the entire genome and specific traits or diseases.
Genome-Wide Selective Sweeps
Genome-wide selective sweeps are genomic regions in which a beneficial genetic variant has rapidly increased in frequency due to positive selection.
Genomic Imprinting
Genomic imprinting is an epigenetic phenomenon where certain genes are expressed in a parent-of-origin-specific manner.
Genomic Instability
Genomic instability refers to the tendency of genetic material to undergo mutations or changes, leading to genomic alterations.
Genomic Medicine
Genomic medicine is an emerging medical discipline that involves using an individual's genetic information to guide medical decisions.
Genomic Selection
Genomic selection is a breeding strategy in which genetic markers are used to predict the performance or traits of individuals for selection.
Genomics
Genomics is the study of the structure, function, and mapping of genomes in living organisms.
Genotype
Genotype refers to the genetic makeup or set of genes present in an organism.
H
Haplotype
A haplotype is a set of genetic variants, or alleles, that are inherited together on the same chromosome.
Hardy-Weinberg Equilibrium
Hardy-Weinberg equilibrium is a principle that describes the expected genetic variation in a population that is not undergoing any evolutionary change.
I
Isoform
An isoform is any of several different forms of the same protein, encoded by different genes or produced by alternative splicing of the same gene.
L
Long Non-Coding Rna
Long non-coding RNA (lncRNA) is a type of RNA molecule that is transcribed from the genome but does not encode proteins.
Long Noncoding Rna (Lncrna)
Long noncoding RNA (lncRNA) refers to RNA molecules longer than 200 nucleotides that do not code for proteins but have various regulatory functions in gene expression.
M
Metabolic Network
A metabolic network is a collection of interconnected metabolic pathways that allows the flow and transformation of metabolites in an organism.
Metabolic Pathway
A metabolic pathway is a series of chemical reactions that occur within a cell, resulting in the production or breakdown of specific molecules.
Metabolomics
Metabolomics is the study of the small molecules, known as metabolites, present in cells, tissues, or biological fluids.
Metagenomics
Metagenomics is the study of genetic material recovered directly from environmental samples, without the need for isolation and cultivation of individual organisms.
Methylome
The methylome is the complete set of DNA methylation patterns in a cell or organism.
Microarray
A microarray is a laboratory tool used to simultaneously detect and measure the expression levels of thousands of genes.
Mitochondrial Dna (Mtdna)
Mitochondrial DNA (mtDNA) is a small circular genome found in the mitochondria, responsible for producing energy within the cell.
Mutation
A mutation is a permanent change in the DNA sequence of a gene or chromosome.
N
Next-Generation Sequencing
Next-Generation Sequencing (NGS) is a high-throughput DNA sequencing method that enables the simultaneous analysis of millions of DNA fragments.
Nucleotide
A nucleotide is a building block of DNA or RNA, consisting of a sugar molecule, a phosphate group, and a nitrogenous base.
O
Ortholog
An ortholog is a gene present in different species that evolved from a common ancestral gene.
P
Paralog
A paralog is a gene that is related to another gene in the same organism through gene duplication.
Pcr
Polymerase Chain Reaction (PCR) is a technique used to amplify a specific DNA sequence.
Personalized Medicine
Personalized medicine, also known as precision medicine, is an approach to medical care that utilizes an individual's genetic information, environment, and lifestyle to tailor prevention, diagnosis, and treatment strategies.
Pharmacogenomics
Pharmacogenomics is the study of how an individual's genetic makeup affects their response to drugs.
Phasing
Phasing is the process of determining the order of genetic variants along a chromosome in an individual's genome.
Phenome
The phenome refers to the set of observable phenotypic traits (e.g., physical features, behavior, physiological characteristics) of an organism or a population.
Phenotype
Phenotype is the observable characteristics or traits of an organism, resulting from the interaction of its genotype with the environment.
Phylogenetic Tree
A phylogenetic tree is a branching diagram that shows the evolutionary relationships among different organisms based on their genetic similarities and differences.
Phylogenetics
Phylogenetics is the study of the evolutionary relationships among organisms, based on similarities and differences in their genetic material.
Phylogenomics
Phylogenomics is the study of genome-wide evolutionary relationships among different species, using computational methods to analyze genomic data.
Polygenic Risk Score (Prs)
A polygenic risk score (PRS) is a numerical summary of an individual's genetic risk for a specific trait or disease, based on a combination of multiple genetic variants.
Polygenic Trait
A polygenic trait is a trait that is influenced by multiple genes, as opposed to a single gene.
Population Genetics
Population genetics is the study of genetic variation within and between populations and the factors that influence its distribution and change over time.
Precision Medicine
Precision medicine is an approach to healthcare that considers individual variability in genes, environment, and lifestyle for tailored disease prevention, diagnosis, and treatment.
Protein
A protein is a large, complex molecule composed of amino acids that perform a variety of functions in living organisms.
Protein Structure Prediction
Protein structure prediction is the computational modeling of the three-dimensional structure of a protein based on its amino acid sequence.
Protein-Protein Interaction
A protein-protein interaction refers to the physical interaction between two or more proteins, often crucial for various cellular processes.
Proteome
The proteome refers to the entire set of proteins expressed by a genome, cell, tissue, or organism.
Proteomics
Proteomics is the large-scale study of proteins, including their structure, function, and interactions.
R
Rna
Ribonucleic acid (RNA) is a molecule that is involved in various biological processes, including gene expression, protein synthesis, and regulation.
S
Sequence
A sequence refers to the order of nucleotides (A, T, C, G) in a DNA or RNA molecule.
Sequencing
Sequencing is the process of determining the precise order of nucleotides in a DNA or RNA molecule.
Single Nucleotide Polymorphism (Snp)
A single nucleotide polymorphism (SNP) is a variation at a single position in the DNA sequence that occurs in at least 1% of the population.
Snp
A Single Nucleotide Polymorphism (SNP) is a DNA sequence variation that occurs when a single nucleotide in the genome differs between individuals.
T
Transcription
Transcription is the process of copying DNA into a complementary RNA sequence.
Transcriptomics
Transcriptomics is the study of all the RNA molecules in a cell, including their composition, abundance, and function.
Translation
Translation is the process of synthesizing a protein from an RNA molecule.
Transposon
A transposon, also known as a jumping gene, is a DNA sequence that can change its position within the genome.
V
Variant
A variant refers to a difference in DNA sequence when compared to a reference genome.
Variant Calling
Variant calling is the process of identifying genetic variants or differences from a reference genome.
W
Whole Genome Sequencing
Whole genome sequencing is the complete sequencing of an organism's entire genome.