Glossary

  • a

  • Microscopic, free-living amoeba that can cause severe infections of the eye, skin, and central nervous system; found in water and soil environments worldwide
  • Acid fastness is a physical property that gives a bacterium the ability to resist decolorization by acids during staining procedures. This helps to classify and detect them using relatively easy laboratory procedures such as microscopy.
  • A genetic change, for which there is an available treatment. This treatment is approved or in clinical trial.
  • Contain sequencing binding sites, index sequences, and sites that allow attachment of the library segments to the flow cell lawn
  • Single-stranded or double-stranded synthetic oligonucleotides that can be ligated to the ends of other DNA or RNA molecules.
  • One of four molecules in DNA, abbreviated ‘A’, next to C, T and G. A always clicks to T.
  • Refers to a variant form of a gene, ranging from an SNP to ranges of more than 1000 base pairs being different.
  • A pulmonary alveolus (plural: alveoli, from Latin alveolus, "little cavity") also known as an air sac or air space is one of millions of hollow, distensible cup-shaped cavities in the lungs where oxygen is exchanged for carbon dioxide. Alveoli make up the functional tissue of the lungs known(...)
  • the testing of an amniotic fluid sample, taken from the fluid that surrounds the bab in the womb, through the uterus.
  • when Alexander Fleming discovered that certain fungi secretes compounds that kill bacteria (antibiotics), the discovery led to the development of penicillin. Many antibiotics inhibit bacterial growth protein synthesis without affecting the function of mammalian ribosomes.
  • An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence. An anticodon is found at one end of a transfer RNA (tRNA) molecule. During protein synthesis, each time an amino acid is added to the growing protein, a tRNA forms base(...)
  • A toxin or other foreign substance which induces an immune response in the body, especially the production of antibodies.
  • Antisense is the non-coding DNA strand of a gene. A cell uses an antisense DNA strand as a template for producing messenger RNA (mRNA)
  • The death of cells as a normal part of an organism’s growth or development. It also eliminates pre-cancerous and virus-infected cells in the cell cycle.
  • Apoptosis is the process of programmed cell death. It is used during early development to eliminate unwanted cells; for example, those between the fingers of a developing hand. In adults, apoptosis is used to rid the body of cells that have been damaged beyond repair. Apoptosis also plays a(...)
  •  it is a general term to describe viruses that spread through bites from infected arthropods such as mosquitoes and ticks.
  • a DNA microarray technology allows for the experimenter to rapidly and quantitatively measure expression levels of enormous genes in a biological sample represented in an array. This technology emerged in the 1990s as a way to study diverse biological questions.
  • Impaired muscle control resulting in uncoordinated voluntary movements. Can affect walking, hand coordination, speech, swallowing, and eye movements.
  • Adenosine triphosphate; molecule that is the main energy currency of the cell. It is also used in signal transduction pathways as well as DNA synthesis.
  • Cellular process wherein old, damaged, or abnormal subtances are degraded in the cytoplasm and then recycled to support vital cellular functions during periods of stress or starvation.
  • The upper angle between a branch or leaf and the stem or trunk from which it is growing.
  • b

  • A fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. 
  • Also known as Bayesian model; a probabilistic model that incorporates prior knowledge or beliefs about a system or phenomenon and updates them using observed data.
  • Drugs, these are >900 Da, administered by injection or infusion, and have extracellular targets.
  • Also called molecular marker or signature molecule. Present in blood, body fluids, and tissues signifying normal or abnormal processes relating to a condition or disease.
  • A small tissue sample taken from the body for diagnostic purposes.
  •  is a shared, immutable ledger that facilitate the processes of recording the transactions and tracking assets in a business network.
  • A polymerase chain reaction (PCR) technique that embeds DNA on an oligo-decorated solid surface for cloning.
  • The bronchioles or bronchioli are the smaller branches of the bronchial airways in the respiratory tract. They include the terminal bronchioles, and finally, the respiratory bronchioles that mark the start of the respiratory zone delivering air to the gas exchanging units of the alveoli. The(...)
  • Bovine respiratory syncytial virus – a stress-related infection in cattle leading to respiratory disease. The virus attacks the respiratory tract mucosal cells, exposing the underlying tissue to become susceptible to infections.
  • c

  • A proto-oncogene involved in cell cycle progression, apoptosis, and cellular transformation. Its amplification is observed in numerous human cancers.
  • A wasting syndrome characterized by weight loss, anorexia, asthenia, and anemia. The pathogenicity of this syndrome is multifactorial, due to a complex interaction of tumor and host factors. The signs and symptoms of cachexia are considered as the prognostic parameters in cancer patients.
  • A rare condition characterized by excess hair growth especially on the back, arms, and legs, distinctive facial appearance (broad nasal bridge, epicanthal folds, and wide mouth with full lips), heart defects, and other abnormalities
  • A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. Carriers are associated with diseases inherited as recessive traits. In order to have the disease, an individual must have inherited(...)
  • are T lymphocytes essential for immune response. They help in other immune cells by releasing cytokines to fight infection. 
  • are also part of the immune defense for intracellular pathogens that includes viruses and bacteria.  
  • Cyclin-dependent kinases (CDKs) are a family of protein kinases, that have a regulatory function in the cell cycle. A CDK binds a regulatory protein called a cyclin.
  • cDNA is complementary DNA, synthesized from a single-stranded RNA (e.g., messenger RNA (mRNA) or microRNA (miRNA)) template in a reaction catalyzed by the enzyme reverse transcriptase.
  • When cells die and break down, fragments of DNA are shed into the bloodstream. This is known as cell-free DNA or cfDNA.
  • A theory by Francis Crick stating that the flow of genetic information is unidirectional, that is, from 1) DNA, to 2) RNA, and to 3) protein
  •  The removal of a small bit of tissue from the placenta for testing.
  • Chromatin refers to the composition and conformation of complexes between DNA, protein, and RNA. It is determined by processes that result in the specification, formation, or maintenance of the physical structure of eukaryotic chromatin. These processes include histone modification, DNA(...)
  • A chromosome disorder results from a change in the number or structure of chromosomes.
  • One of the nuclear structures, composed largely of chromatin, into which eukaryotic genes are organized.
  • Class of biological safety cabinet that is an enclosed ventilated workspace with HEPA-filtered exhaust air to remove hazardous agents like bacteria and viruses. Class II BSCs protect the user, environment, and the sample being handled. It can be divided further into four types: A1, A2, B1, B2.
  • Clubfoot describes a range of foot abnormalities usually present at birth (congenital) in which your baby's foot is twisted out of shape or position. 
  • The product for the NGS sequencing step, it is platform dependent. Aka template generation.
  • Variants where parts of the gene are copied, amplified, or even deleted completely from the gene.
  • The coding region of a gene, also known as the coding DNA sequence (CDS), is the portion of a gene's DNA or RNA that codes for protein.
  • COLD-PCR is a procedure in the lab, with the advantage of highlighting low-level mutations, but requiring a very precise temperature control system. Its’ principle is based on the notion that mutated DNA has slightly colder denaturization temperatures. By adding an intermediate annealing step(...)
  • Identical or similar sequences in nucleic acids or proteins across species, or within a genome, or between donor and receptor taxa. Conservation indicates that a sequence has been maintained by natural selection. 
  • Variation in the number of copies of a particular gene compared to a reference standard.
  • It is a contagious disease caused by the SARS-CoV-2. The virus is mainly transmitted when people breathe in contaminated air particles and small airborne droplets that contain the virus. Transmissions can also occur through close physical contact to the people infected.
  • Clustered Regularly Interspaced Short Palindromic Repeats; a bacterial immune system component used as a tool to cut a target DNA sequence in gene editing
  • Microscopic parasite that causes diarrheal disease called cryptosporidiosis where many species infect animals, some of which also infect humans; commonly spread through water (drinking and recreational)
  • Chrorionic villus sampling; also referred to as chronionic villus biopsy. A prenatal examination that entails extracting a tissue sample from the placenta in order to analyse it for chromosomal abnormalities and specific genetic disorders.
  • A regulatory protein that binds with a CDK, to play a regulatory role in the cell cycle.
  • Cyclins are a family of regulatory proteins that control the progression of the cell cycle, by activating cyclin-dependent kinases (CDKs)
  • A condition characterized by an abnormally reduced count of blood cells.
  • One of four molecules in DNA, abbreviated ‘C’, next to A, T and G. C always clicks to G.
  • d

  • Droplet digital polymerase chain reaction. Digital PCR using water-in-oil emulsions as a means of separating samples
  • Dead air means the air does not circulate. A dead air box is a circulation-free workspace where DNA/RNA can be manipulated and amplified to prevent sample contamination.
  • A type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome
  •  is a model in which every set of variable states is uniquely determined by parameters in the model and by set of previous states of theses variables. A model such as this always performs the same way for a set of given initial conditions.
  • Cell or Cellular differentiation is the process in which a cell changes from one cell type to another. Usually, the cell changes to a more specialized type. This process occurs in all stages of the development of an organism, in embryogenesis, in childhood, and even in adulthood.
  • A number of sequential events, associated with different pathological aspects of a disease, the first triggering the next, and so on.
  • Deoxyribonucleic acid is responsible for carrying genetic material inherited from parents to offspring, also referred to as the blueprint of all life on earth. The molecule comprises four nucleotide bases: A, C, G, and T
  • Separating or breaking DNA strands into pieces.
  • Determining the sequential order of nucleotides in DNA.
  • Building blocks of DNA; any one of the nucleoside triphosphates containing deoxyribose: dATP, dCTP, dGTP, dCTP
  • A change in the DNA sequence of genes, that causes cells to become cancer cells and grow and spread in the body.
  • In normal cells, proteins guide the development of the cell, i.e. the cell cycle. Cancer drivers are mutations in oncogenes rendering them constitutively active and are the central control points for the progression of malignancies.
  • A condition in which speaking becomes challenging due to weakness in the muscles involved in speech production.
  • e

  • causes a disease known as Ebola virus disease and Ebola hemorrhagic fever in humans and other primates. The disease is spread only by direct contact with the blood and/or other bodily fluids of a person who has the disease.
  • The Edman degradation method is for sequencing proteins, established back in the 1950s by Pehr Edman. It involves cleaving the N-terminal peptide without breaking the peptide bonds between the other amino acid residues, thus keeping the rest of the structure intact; its application is in(...)
  • the digitized version of a patients paper chart. It allows for an easier and readily available access records for authorized health personnel and users.
  • A PCR technique that is conducted on a bead surface within tiny water bubbles floating on an oil solution.
  • The defect that occurs in the cell cycle, resulting in a switch in the mitotic cell cycle to an endocycle. Endoreplication produces cells with extra copies of genomic DNA.
  • Epigenetics (also Epigenomics) is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence.
  • The complete description of all the chemical modifications to DNA and histone proteins that regulate the expression of genes within the genome.
  • A specific part of an antigen that is recognized by the immune system, specifically by antibodies, B cells, or T cells, to which an antibody binds.
  • Includes the coding region within the genome and does not include the introns or noncoding regions.
  • An exon is a region of the genome that ends up within an mRNA molecule. Some exons are coding for a protein, whereas others are non-coding.
  • Outside the heart
  • All body fluid, outside the body cells.
  • f

  • Fluorescent in situ hybridization (FISH). A molecular cytogenetic technique that uses fluorescent probes to bind to parts of DNA that have a high degree of sequence complementarity.
  • Flow cells are sample cells designed so that liquid samples can continuously flow through the beam path. Flow cells are useful for samples that can be damaged by a light source. In flow cells, new samples are continuously replenished so that the damage does not interfere with the signal. 
  • A molecule that exhibits fluorescence usually conjugated with a protein or other macromolecule and used as a probe or assay
  • Foot-and-mouth disease virus that causes one of the most contagious animal diseases that infects cattle, sheep, goats, pigs, and other cloven-hoofed mammals; a non-enveloped, single-stranded RNA virus belonging to the family Picornaviridae
  • A hybrid gene formed from partial or complete sequences of 2 previously separate genes.
  • g

  • A sex, or reproductive, cell, containing half of the necessary genetic material to form a complete organism. During fertilization, female and male gametes fuse.
  • A compound of intricate structure that incorporates both lipids and carbohydrates, primarily located within the plasma membrane (outer membrane) of various cell types.
  • The process in which information from DNA is converted into a functional product, such as a protein, and is manifested phenotypically.
  • A test that analyzes multiple genes at once. The scope of a panel refers to the number of genes, or the size of the panel to be tested.
  • A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.
  • Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.
  • The genome is the total genetic information of humans.
  • A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a(...)
  • The study and understanding of the genome.
  • A genotype is the genetic arrangement (i.e. the entire collection of genes) that makes up the traits that an organism inherited from its parents.
  • Any detectable variation within germ cells. Mutations in these cells are the only mutations that can be inherited. Can be caused by endogenous and exogenous factors. These are involved in 5 – 10% of cancers.
  • is an international consortium that is responsible for developing standards for the collection, storage, analyzation and sharing of genomic data in order to enable what is called as an “internet of genomics”.
  • is a public-private global health partnership with the objective of increasing the access of immunization in poor countries.
  • One of four molecules in DNA, abbreviated ‘G’, next to A, C, and T. G always clicks to C.
  • h

  • causes an increased risk of cancer formation in the form of liver cancer, hepatocellular carcinoma. The bacterium Helicobacter pylori are important agents in cancers. 
  • Heterozygous refers to having inherited different forms of a particular gene from each parent
  • or next-generation sequencing (NGS) technology is developed in order to allow the availability of vastly more DNA sequence data to be processed and generated at a relative low cost per base. GenBank, EML-Bank, and DDBJ accept sequences that consists of complete or incomplete genomes that can(...)
  • Concerning the structure, especially the microscopic structure, of organic tissues.
  • A protein that provides structural support to a chromosome. In order for very long DNA molecules to fit into the cell nucleus, they wrap around complexes of histone proteins, giving the chromosome a more compact shape. Some variants of histones are associated with the regulation of gene(...)
  • HIV stands for human immunodeficiency virus. A virus attacks the body’s immune system. When it is left untreated it could lead to what is called as AIDS (acquired immunodeficiency syndrome), which is the failure of the individuals immune system. It is a life-threatening condition.
  • A holo-enzyme is the active complex of an enzyme with other compounds, like co-enzymes or metal ions.
  • Refers to the equilibrium state in which all bodily systems work in harmony, ensuring the body’s survival and proper functioning.
  • Having the same genes in the same loci and with points along each chromosome, that enables the pair of chromosomes to align correctly with each other before separating during cell division
  • Repetitive stretch of single-nucleotide types (eg, TTT or GGGGGG).
  • Homozygous is the genetic condition where an individual inherits the same alleles for a particular gene from both parents
  • Human papillomavirus Type 16. Sexually transmitted and is the most common high-risk type of HPV. It can contribute to cervical changes even if there are no noticeable symptoms. Most HPV 16-positive cancers present as squamous cell carcinoma.
  • Human papillomavirus Type 18. Also sexually transmitted and another high-risk type of HPV that can lead to cervical cancer; likely to integrate the viral genome compared to HPV-16 and most HPV 18 positive cancers present as adenocarcinoma.
  • An international research effort to determine the human genome, and to identify all of the genes that it contains.
  • Otherwise called Htt, this protein is found to play a role in the neurons in the brain while also being crucial for a child’s normal development before birth. While the exact function of Htt is unclear, it is involved in a number of cell activities such as chemical signaling, transport of(...)
  • The bonding of single-stranded DNA or RNA to form double-stranded DNA or RNA.
  • i

  • IHC, a method in the lab, is based on the immunological principle of antibodies, binding to molecules on the surfaces of cells, bacteria, and viruses (antigens), applied to histological samples taken from blood, tissue fluids, and tissues, organs and tumors. Antibody specific coloring(...)
  • is a kind of treatment used for fighting cancer with one’s immune system.
  • The total number of new cases
  • Variants identified that are not directly relevant to the diagnostic question.
  • Small insertions or deletions of 1 to 50 base pairs of DNA into the genome of an organism.
  • Influenza is also known as the “flu” which is an infectious disease that is caused by its subtypes A, B, C, and D. Influenza A virus is found widespread among mammalian species such as humans and pigs. Influenza B and Influenza C viruses primarily infect humans, and Influenza D virus is(...)
  • The addition of one or more nucleotide base pairs into a DNA sequence
  • The entire set of molecular interactions in a cell
  • is a voluntary scientific organization providing forums for various collaborations among the world’s leading cancer and genomics researchers.
  • Intragenic Regions, noncoding sequences in genes, like a spacer.
  •  An intron is a region that resides within a gene but does not remain in the final mature mRNA molecule following transcription of that gene and does not code for amino acids that make up the protein encoded by that gene.
  • k

  • An enzyme responsible for accelerating chemical reactions within the body by attaching to phosphate groups of various molecules like sugars or proteins. Consequently, this process causes other molecules within the cell to become active or inactive.
  • l

  • A skin disease, caused by the larvae of various nematode parasites of the hookworm family (Ancylostomatidae). 
  • DNA/RNA prepared into a form compatible with the sequencing system used. This includes DNA fragmentation, shearing the DNA into smaller fragments, and adding common adapters to the DNA fragments.
  • In biochemistry and pharmacology, a ligand is a substance that forms a complex with a biomolecule to serve a biological purpose. In protein-ligand binding, the ligand is usually a molecule that produces a signal by binding to a site on a target protein. The binding typically results in a(...)
  • A test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood. A liquid biopsy may be used to help find cancer at an early stage. It may also be used to help plan treatment or to find out(...)
  • Loss of Heterozygosity: LOH is the term used to describe the inactivation of the other, wild type allele, of a certain mutated gene.
  • m

  • Literally meaning: “large head.” It refers to infants being born with a condition where their head is larger than typical for the same age and sex.
  • An increase in the testicular volume of at least twice the norm based on age.
  • Particles exhibiting interplay between light and magnetism on a nanoscale level; involved in a number of technologies such as biomedicine, pharmacy, and catalysis
  • Also called mass spectroscopy. An analytic technique using electric and magnetic fields to sort out gaseous ions in chemical substances according to their mass-to-charge ratios.
  • Also called next-generation sequencing. A high-throughput method used to determine a portion of the nucleotide sequence of a genome. It utilizes DNA sequencing technologies allowing processing of multiple DNA sequences at the same time.
  • A premix of concentrated solution needed to run a PCR assay. The mix usually contains a DNA polymerase, dNTPs, MgCl2, stabilizers, and enhancers in a reaction buffer.
  • is an enveloped RNA virus that has a helical shaped nucleocapsid. Measles vaccines use live attenuated vaccines. It can elicit protective levels of antibodies, but these antibodies lose their effectiveness through time so a repeat immunization (boosters) are often used to maintain the full(...)
  • The route map of all biochemical reactions in a cell
  • is the analysis/study of any genetic material from an environmental sample.
  • Major Histocompatibility Complex is a large locus on vertebrate DNA containing a set of closely linked polymorphic genes that code for cell surface proteins essential for the adaptive immune system. 
  • A technology used to detect expression or copy number of many genes simultaneously.
  • The genetic material of all the microbes - bacteria, fungi, protozoa, and viruses - that live on and inside the human body
  • MSI is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR). The presence of MSI represents phenotypic evidence that MMR is not functioning normally.
  • microRNA; found in cells and blood. Smaller than many other types of RNA, they bind to mRNAs and block translation of proteins.
  • Occurs when a single base pair substitution produces an amino acid that is different from the original amino acid encoded. Such mutation will alter protein function.
  • Monoclonal antibodies bind only to one specific antigen, making it a very specific tool for identifying certain types of health conditions.
  • A single gene disorder as the result of a single mutated gene
  • Messenger RNA, a single-stranded RNA molecule that is complementary to one of the DNA strands of a gene. It is an RNA version of the gene that leaves the cell nucleus and moves to the cytoplasm where proteins are made.
  • Diseases whose causes cannot be summed up to a single factor such as genetics or environment, but rather a multitude of factors that accumulate over time and circumstances
  • Multifactorial -or complex- diseases are caused by combinations of multiple genetic and environmental factors. 
  • Amplification of several different DNA sequences in a single PCR experiment.
  • Mutations play an important role in the development of cancer. They cause a cell to make (or not make) proteins that affect how the cell grows and divides into new cells.
  • n

  • is a technique at which used in the sequencing of biopolymers, specifically polynucleotides in the form of DNA/RNA. In a nanopore sequence, a single molecule of DNA or RNA can be sequenced without the need of PCR amplification or chemical labelling of the sample needed. Nanopore devices can(...)
  • Tiny nanodevices with pores on a nanoscale diameter
  • Cylindrically-shaped allotropes of carbon nanostructures with a high surface area and large aspect ratio. Recently, a study pointed out that carbon nanotubes were able to extract nucleic acids directly from human saliva comparably as efficient as commercial DNA/RNA extraction kits.
  • is the core organization in Japan for various databases related in life sciences.
  • is the main agency in the US government that is responsible for biomedical and public health research.
  • is when an AI or computer program is able to understand human language as it is spoken or written. In healthcare, software that have the ability to read a scanned text within seconds of medical data and extract and identify what is in that data that is useful for physicians.
  • biological molecules that inhibit the transcription process of a gene
  • is the general tetanus infection of a newborn, usually passed from an unvaccinated mother and enters the body through infection.
  • Next Generation Sequencing (NGS), technology is a massively parallel sequencing technology, with the aid of computer technologies, to identify complex DNA sequences in one laboratory set up, without the need of performing separated steps in the process.
  • Non-coding DNA sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules (e.g. transfer RNA, ribosomal RNA, and regulatory RNAs). Other functions of non-coding DNA include(...)
  • (In mitosis) The failure of sister chromatids to separate during and after mitosis. (In meiosis) Homologous chromosomes fail to segregate or separate during and after meiosis.
  • A nucleotide is the basic building block of DNA and RNA, there four types, A’s, T’s, G’s and C’s.
  • A highly specialized organelle, it stores the cell’s hereditary material (DNA), and it coordinates the cell’s activities.
  • The study of how food affects a person's genes and how a person's genes affect the way the body responds to food.
  • o

  • Use of a drug for a different condition than for which it is approved. This is done when the cancer has the same molecular properties.
  • Abbreviated form for oligonucleotides; short single strands of synthetic DNA/RNA that serve as the starting point in next-generation sequencing and other molecular biology applications such as genetic testing and forensic research
  • Portions of a nucleotide sequence without a stop codon; the length of DNA or RNA through which the ribosome can travel transcribing one amino acid after another
  •  a functioning unit of DNA containing a cluster of genes under the control of a single promoter
  • is a UK based company that develops and sells nanopore-sequencing products (MinION) for the real-time direct analysis of a sample of single molecules.
  • p

  • The result of genome duplications, occurred at least several million years ago. Such an event could either double the genome of a single species (autopolyploidy) or combine those of two species (allopolyploidy).
  • are a type of pathogen that exhibit spore forming characteristics in its morphology. Some strains of bacteria are spore forming and it can withstand extreme weather conditions, starvation, temperature, etc. Since it exhibits the following characteristics, it can be transmitted over long(...)
  • Polymerase Chain Reaction (PCR) A method in the laboratory to create many copies of a specific region of DNA, to be analyzed effectively.
  • Type of covalent bond that linkes two amino acids together by joining the carboxyl group of one amino acid to the adjacent amino acid's amino group.
  • The timeframe commencing at 22 weeks of gestation (equivalent to 154 days) and extending until seven days after delivery.
  • these have a rounded shaped nucleus; they consists of lymphocytes (e.g. T, B, and NK cells).
  • Pharmacogenomics is part of precision medicine. Precision medicine aims to customize health care, with decisions and treatments tailored to each individual in every way possible.
  •  also called as pharmacogenetics is a field of research involving in the study of how a person’s genes affect how he/she responds to medications. The main goal of the following field is to help health professionals to select the drugs and dosages that best suit the patient.
  • The composite observable characteristics or traits of an organism.
  • An enzyme that facilitate the hydrolysis of organic phosphates. These enzymes function as catalysts, enabling the release of phosphate from its parent molecule. E.g. removing phosphate from ATP (releasing phosphate and energy).
  • A mutation that affects a single-nucleotide base.
  • In statistics, a distribution function useful for characterizing events with very low probabilities of occurrence within some definite time or space. In digital PCR, the number of positive reactions corresponds to the concentration of target in the sample. A Poisson distribution can be used(...)
  • is an example of an animal virus that only infects closely related species e.g. primates. It infects only the cells in the intestine and affects the host’s motor neurons in the spinal cord that cause paralysis. Before, a live attenuated vaccine were used until it was discontinued because of(...)
  • A technique used to separate biological molecules, usually proteins or nucleic acids, based on their molecular weight.
  • arthritis occurring in at least five joints.
  • Polyclonal antibodies will bind to more antigens, including non-targets, causing the staining to be less specific.
  • A polygenic trait is one whose phenotype is influenced by more than one gene. Traits that display a continuous distribution, such as height or skin color, are polygenic. The inheritance of polygenic traits does not show the phenotypic ratios characteristic of Mendelian inheritance, though(...)
  • biological molecules that promote the transcription process of a gene
  • Precision genomics or precision oncology, defined as molecular profiling of tumors to identify targetable alterations,
  • is a group of electronic tools that help farmers manage livestock. It consists of automated monitoring systems of animals in order to improve their production/reproduction, health and welfare to better its impact on the environment.
  • Precision genomics or precision oncology is defined as the molecular profiling of tumors to identify targetable alterations.
  • Before giving birth, prenatal.
  • The number of bases sequenced per run.
  • It is an internet based reporting system that is dedicated to rapidly disseminating global information on outbreaks of infectious diseases including in animals and in plants.
  • Proteins are large and complex molecules, made up of thousands of smaller units, amino acids. They are required for the structure, function, and regulation of the body’s tissues and organs.
  • the entire collection of proteins that have been expressed by the organism.
  • Two phosphate groups linked by esterification (alcohol + acid → ester + water). It is released in many of the synthetic steps involving nucleotide triphosphates such as nucleic acid elongation.
  • A method of DNA sequencing by measuring the synthesis of the complementary DNA strand (sequencing by synthesis).
  • q

  • Quantitative PCR (qPCR), also kinetic or real-time PCR. An extremely sensitive PCR-based laboratory technique that allows the fast accurate measurement of the amount of specific nucleic acids in a sample, during the amplification.
  • Artificial semiconductor nanoparticles that can transport electrons and emit light depending on their sizes when excited by UV light. Applications include solar cells and fluorescent biological labels.
  • r

  • A way of dividing the sequence of nucleotides in a nucleic acid molecule into a set of consecutive, non-overlapping triplets. 
  • This is a consensus sequence of the DNA bases of an organism. The NGS sample is compared to the reference sequence to look for alterations.
  • Repeated sequences (also known as repetitive elements, repeating units or repeats) are patterns of nucleic acids (DNA or RNA) that occur in multiple copies throughout the genome. In many organisms, a significant fraction of the genomic DNA is highly repetitive, with over two-thirds of the(...)
  • Rhesus disease is a condition where antibodies in a pregnant woman's blood destroy her baby's blood cells. It doesn't harm the mother, but it can cause the baby to become anemic and develop jaundice.
  • A cellular particle made of RNA and protein. Ribosomes are macromolecular machines, found within all living cells, that perform biological protein synthesis (mRNA translation).
  • Ribonucleic acid (RNA) is a polymeric molecule, essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and DNA are nucleic acids. The nitrogenous bases in RNA are adenine (A), guanine (G), cytosine (C), and uracil (U), which replaces thymine (T) in DNA.
  • Short for RNA interference. Phenomenon in which small RNA molecules can impede protein translation by binding to messenger RNAs responsible for encoding those proteins.
  • Reverse Transcriptase PCR (RT-PCR), a lab method,this method is used to detect even very small amounts of RNA. The RNA is first reverse transcribed in its complementary DNA (cDNA), using a reverse transcriptase.
  • s

  • Also chain termination method, a technique for DNA sequencing based on the selective incorporation of chain-terminating dideoxynucleotides (ddNTPs) by DNA polymerase during in vitro DNA replication.
  •  is a virus that inflict a viral respiratory disease (SARS-CoV-1 and SARS-CoV-2). SARS viruses have zoonotic origins.
  • is a virus that inflict a viral respiratory disease (SARS-CoV-1 and SARS-CoV-2). SARS viruses have zoonotic origins.
  • Genetic test results that provide information about changes (variants) in a gene unrelated to the primary purpose for the testing.
  • External agents, affecting an organism's ability to survive in a given environment. Can be negative (decreases the occurrence of a trait) or positive (increases the proportion of a trait)
  • A very small electronic circuit consisting of an assembly of elements made from a chip of semiconducting material, such as crystalline silicon, to perform a given function
  • Proportion of the targeted genomic region that is actually sequenced (found in the sequences from the generated data).
  • A technique in which sequencing is performed by detecting the nucleotide incorporated by a DNA polymerase.
  • Number of times a given nucleotide in the genome has been read during the sequencing run (often referred to as depth of coverage).
  • The scientific study of serum and other body fluids, usually referring to the diagnostic identification of antibodies in the serum.
  • These diseases are primarily caused by a single gene mutation. , several different mutations can result in the same disease but with varying degrees of severity and phenotype. They show straightforward inheritance patterns.
  • SNPs (pronounced “snips”) are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA nucleotide. SNPs occur normally throughout a person’s DNA. They occur almost once in every 1,000 nucleotides on average, which means there are roughly 4 to 5(...)
  • Small interfering RNA. Exhibit high specificity and are typically produced to suppress translation of particular mRNAs. They are generated through the transcription of double-stranded RNA, then trimmed to the desired size within the nucleus before being released into the cytoplasm.
  • These are <900 Da, can be orally administered and have extracellular or intracellular targets. As opposed to biologics, >900 Da.
  • Single nucleotide polymorphism (SNP). Variation of a single nucleotide of a particular gene (e.g. C for A), with some degree of frequency in a population. Leads to conditions like cystic fibrosis.
  • A single-nucleotide variant (SNV) is a variation in a single nucleotide without any limitations of frequency and may arise in somatic cells. A somatic single-nucleotide variation (e.g., caused by cancer) may also be called a single-nucleotide alteration.
  • An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
  • Standard Operating Procedures (SOPs) are a detailed explanation to facilitate the process of diagnostics and improve the likelihood of timely, successful and accurate result reporting.
  • is a collaborative network partnership to develop the necessary partnerships in SEA to conduct collaborative clinical research, that address emerging threats, increase in the production of evidence based knowledge and to improve the clinical management of patients with infectious diseases of(...)
  • One of the major constituents of the cell membranes, enriched in the central nervous system and in myelin sheaths surrounding neuronal axons. It has been reported to have a critical role in myelin function and brain development.
  • A start codon is the 3-nucleic acid sequence indicating the starting point for the production of a protein. Typical start codons in DNA are ATG, TTG, GTC, and CTG.
  •  is a type of simulation at which that the system has variables that can variably change stochastically/randomly with individual probabilities.
  • A stop codon is a trinucleotide sequence within DNA and messenger RNA (mRNA) molecules that signal a halt to protein synthesis. Typical DNA stop codons are TAA, TAG, and TGA.
  • A structural heart disease is a form of heart disease that refers to defects within your heart that you were either born with or have developed due to aging, injury, or infection.
  • Natural tumor pathogenesis control, can cause cancer progression when inactivated through mutation or allele loss.
  • t

  • Analyzing a panel of genes related to a disorder.
  • The noncoding strand of DNA.
  • An inherited blood disorder wherein the body does not produce enough hemoglobin and impairs the function of red blood cells. The condition can lead to severe anemia which can damage organs and cause death.
  • One of four molecules in DNA, abbreviated ‘T’, next to A, C and G. A always clicks to T.
  • proteins involved in the process of converting, or transcribing, DNA into RNA
  • The total of all of the transcribed RNAs in a cell/organ/organism is the transcriptome. Transcription is the production of RNA from a DNA sequence.
  • A genetic change in which a piece of one chromosome breaks off and attaches to another chromosome. Sometimes, pieces from two different chromosomes trade places with each other.
  • A transfer RNA is an adaptor molecule composed of RNA, typically 76 to 90 nucleotides in length, that serves as the physical link between the mRNA and the amino acid sequence of proteins.
  • u

  • Uracil (U), one of the four nitrogenous bases in RNA, next to A, G and C. Uracil replaces thymine in DNA.
  • v

  • Alteration of a DNA sequence as compared to the reference sequence that may or may not be associated with a disease state.
  • The process of linking sequence variants with functional information, for example, the effect of a variant on protein function.
  • The process by which variants are identified from sequence data.
  • Allows safe transfer of viruses and other microorganisms such as chlamydia and mycoplasma for further research using cell culture methods, diagnostic tests, and molecular biology techniques. Commercially prepared VTMs contain buffered proteins (serum, albumin, or gelatin) and antibiotics(...)
  • are the ones that aid in the colonization of the host at a cellular level. They are quick to adapt metabolically, physiologically, and morphologically.
  • w

  • Whole exome sequencing (WES). The process of determining the DNA sequence of all the coding exons of a genome.
  • Whole-genome sequencing (WGS). The process of determining the complete DNA sequence of a genome.
  • Method of sequencing the protein-coding regions of the DNA. This method allows identification of disease-causing mutations by comparing variations in the protein-coding regions.
  • WTS stands for Whole Transcriptome Sequencing. This creates a view of the complete complement of transcripts in a specific cell, like mRNA and all non-coding RNA’s.
  • x

  • A phenomenon in which the atoms of a crystal, by virtue of their uniform spacing, cause an interference pattern of the waves present in an incident beam of X rays. A technique used in materials science for determining the atomic and molecular structure of a material.
  • z

  • is spread by Aedes mosquitoes. It comes from the Zika forest in Uganda, and shares a genus with dengue, yellow fever and Japanese encephalitis viruses. An infection from the virus is named as a Zika fever or Zika virus disease. It often shows no to mild symptoms similar to a mild form of(...)
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