DNA sequencingDNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery. Knowledge of DNA sequences has become indispensable for basic biological research, DNA Genographic Projects and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology and biological systematics.
MicrofluidicsMicrofluidics refers to a system that manipulates a small amount of fluids ((10−9 to 10−18 liters) using small channels with sizes ten to hundreds micrometres. It is a multidisciplinary field that involves molecular analysis, biodefence, molecular biology, and microelectronics. It has practical applications in the design of systems that process low volumes of fluids to achieve multiplexing, automation, and high-throughput screening.
Droplet-based microfluidicsDroplet-based microfluidics manipulate discrete volumes of fluids in immiscible phases with low Reynolds number and laminar flow regimes. Interest in droplet-based microfluidics systems has been growing substantially in past decades. Microdroplets offer the feasibility of handling miniature volumes (μl to fl) of fluids conveniently, provide better mixing, encapsulation, sorting, sensing and are suitable for high throughput experiments.
Sanger sequencingSanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Frederick Sanger and colleagues in 1977, it became the most widely used sequencing method for approximately 40 years. It was first commercialized by Applied Biosystems in 1986. More recently, higher volume Sanger sequencing has been replaced by next generation sequencing methods, especially for large-scale, automated genome analyses.
CMOSComplementary metal–oxide–semiconductor (CMOS, pronounced "sea-moss", siːmɑːs, -ɒs) is a type of metal–oxide–semiconductor field-effect transistor (MOSFET) fabrication process that uses complementary and symmetrical pairs of p-type and n-type MOSFETs for logic functions. CMOS technology is used for constructing integrated circuit (IC) chips, including microprocessors, microcontrollers, memory chips (including CMOS BIOS), and other digital logic circuits.
Active-pixel sensorAn active-pixel sensor (APS) is an , which was invented by Peter J.W. Noble in 1968, where each pixel sensor unit cell has a photodetector (typically a pinned photodiode) and one or more active transistors. In a metal–oxide–semiconductor (MOS) active-pixel sensor, MOS field-effect transistors (MOSFETs) are used as amplifiers. There are different types of APS, including the early NMOS APS and the now much more common complementary MOS (CMOS) APS, also known as the CMOS sensor.
Signal-to-noise ratioSignal-to-noise ratio (SNR or S/N) is a measure used in science and engineering that compares the level of a desired signal to the level of background noise. SNR is defined as the ratio of signal power to noise power, often expressed in decibels. A ratio higher than 1:1 (greater than 0 dB) indicates more signal than noise. SNR is an important parameter that affects the performance and quality of systems that process or transmit signals, such as communication systems, audio systems, radar systems, imaging systems, and data acquisition systems.
Polymerase chain reactionThe polymerase chain reaction (PCR) is a method widely used to make millions to billions of copies of a specific DNA sample rapidly, allowing scientists to amplify a very small sample of DNA (or a part of it) sufficiently to enable detailed study. PCR was invented in 1983 by American biochemist Kary Mullis at Cetus Corporation; Mullis and biochemist Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993.
Integrated circuitAn integrated circuit or monolithic integrated circuit (also referred to as an IC, a chip, or a microchip) is a set of electronic circuits on one small flat piece (or "chip") of semiconductor material, usually silicon. Large numbers of miniaturized transistors and other electronic components are integrated together on the chip. This results in circuits that are orders of magnitude smaller, faster, and less expensive than those constructed of discrete components, allowing a large transistor count.
MOS Technology 6502The MOS Technology 6502 (typically pronounced "sixty-five-oh-two" or "six-five-oh-two") is an 8-bit microprocessor that was designed by a small team led by Chuck Peddle for MOS Technology. The design team had formerly worked at Motorola on the Motorola 6800 project; the 6502 is essentially a simplified, less expensive and faster version of that design. When it was introduced in 1975, the 6502 was the least expensive microprocessor on the market by a considerable margin.
Massive parallel sequencingMassive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing. Some of these technologies emerged between 1993 and 1998 and have been commercially available since 2005. These technologies use miniaturized and parallelized platforms for sequencing of 1 million to 43 billion short reads (50 to 400 bases each) per instrument run.
Lab-on-a-chipA lab-on-a-chip (LOC) is a device that integrates one or several laboratory functions on a single integrated circuit (commonly called a "chip") of only millimeters to a few square centimeters to achieve automation and high-throughput screening. LOCs can handle extremely small fluid volumes down to less than pico-liters. Lab-on-a-chip devices are a subset of microelectromechanical systems (MEMS) devices and sometimes called "micro total analysis systems" (μTAS). LOCs may use microfluidics, the physics, manipulation and study of minute amounts of fluids.
Third-generation sequencingThird-generation sequencing (also known as long-read sequencing) is a class of DNA sequencing methods currently under active development. Third generation sequencing technologies have the capability to produce substantially longer reads than second generation sequencing, also known as next-generation sequencing. Such an advantage has critical implications for both genome science and the study of biology in general. However, third generation sequencing data have much higher error rates than previous technologies, which can complicate downstream genome assembly and analysis of the resulting data.
Image sensorAn image sensor or imager is a sensor that detects and conveys information used to form an . It does so by converting the variable attenuation of light waves (as they pass through or reflect off objects) into signals, small bursts of current that convey the information. The waves can be light or other electromagnetic radiation. Image sensors are used in electronic imaging devices of both analog and digital types, which include digital cameras, camera modules, camera phones, optical mouse devices, medical imaging equipment, night vision equipment such as thermal imaging devices, radar, sonar, and others.
Chemical reactionA chemical reaction is a process that leads to the chemical transformation of one set of chemical substances to another. Classically, chemical reactions encompass changes that only involve the positions of electrons in the forming and breaking of chemical bonds between atoms, with no change to the nuclei (no change to the elements present), and can often be described by a chemical equation. Nuclear chemistry is a sub-discipline of chemistry that involves the chemical reactions of unstable and radioactive elements where both electronic and nuclear changes can occur.
Carrier-to-noise ratioIn telecommunications, the carrier-to-noise ratio, often written CNR or C/N, is the signal-to-noise ratio (SNR) of a modulated signal. The term is used to distinguish the CNR of the radio frequency passband signal from the SNR of an analog base band message signal after demodulation. For example, with FM radio, the strength of the 100 MHz carrier with modulations would be considered for CNR, whereas the audio frequency analogue message signal would be for SNR; in each case, compared to the apparent noise.
BiCMOSBipolar CMOS (BiCMOS) is a semiconductor technology that integrates two semiconductor technologies, those of the bipolar junction transistor and the CMOS (complementary metal–oxide–semiconductor) logic gate, into a single integrated circuit. In more recent times the bipolar processes have been extended to include high mobility devices using silicon–germanium junctions.
Real-time polymerase chain reactionA real-time polymerase chain reaction (real-time PCR, or qPCR when used quantitatively) is a laboratory technique of molecular biology based on the polymerase chain reaction (PCR). It monitors the amplification of a targeted DNA molecule during the PCR (i.e., in real time), not at its end, as in conventional PCR. Real-time PCR can be used quantitatively and semi-quantitatively (i.e., above/below a certain amount of DNA molecules).
Whole genome sequencingWhole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014.
Exome sequencingExome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
