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End-sequence Profiling
End-sequence profiling (ESP) (sometimes "Paired-end mapping (PEM)") is a method based on sequence-tagged connectors developed to facilitate wikt: de novo, ''de novo'' genome sequencing to identify high-resolution copy number and structural aberrations such as Chromosomal inversion, inversions and Chromosomal translocation, translocations. Briefly, the target genomic DNA is isolated and partially digested with restriction enzymes into large fragments. Following size-fractionation, the fragments are cloned into plasmids to construct artificial chromosomes such as bacterial artificial chromosomes (BAC) which are then sequenced and compared to the reference genome. The differences, including orientation and length variations between constructed chromosomes and the reference genome, will suggest copy number and structural aberration. Artificial chromosome construction Before analyzing target genome structural aberration and copy number variation (CNV) with ESP, the target genome is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo
De novo (Latin, , used in English to mean 'from the beginning', 'anew') may refer to: Science and computers * ''De novo'' mutation, a new germline mutation not inherited from either parent * ''De novo'' protein design, the creation of a protein sequence that is not based on existing, natural sequences * ''De novo'' protein structure prediction, the prediction of a protein's 3D structure, based only on its sequence * ''De novo'' synthesis of complex molecules from simple molecules in chemistry * ''De novo'' transcriptome assembly, the method of creating a transcriptome without a reference genome, using de novo sequence assembly * ''De novo'' gene birth, the emergence of genes from non-coding sequence * ''De novo'' domestication, the domestication of new species for human use * ''De novo'' assembly in genomics * ''De Novo'' classification, a pathway to classify new medical devices provided by the US Federal Food, Drug, and Cosmetic Act * Denovo, a supercomputer project that sim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polymerase Chain Reaction
The 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 (chemist), Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993. PCR is fundamental to many of the procedures used in genetic testing and research, including analysis of Ancient DNA, ancient samples of DNA and identification of infectious agents. Using PCR, copies of very small amounts of DNA sequences are exponentially amplified in a series of cycles of temperature changes. PCR is now a common and often indispensable technique used in medical laboratory research for a broad variety of applications including biomedical research and forensic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Laboratory Techniques
A laboratory (; ; colloquially lab) is a facility that provides controlled conditions in which scientific or technological research, experiments, and measurement may be performed. Laboratories are found in a variety of settings such as schools, universities, privately owned research institutions, corporate research and testing facilities, government regulatory and forensic investigation centers, physicians' offices, clinics, hospitals, regional and national referral centers, and even occasionally personal residences. Overview The organisation and contents of laboratories are determined by the differing requirements of the specialists working within. A physics laboratory might contain a particle accelerator or vacuum chamber, while a metallurgy laboratory could have apparatus for casting or refining metals or for testing their strength. A chemist or biologist might use a wet laboratory, while a psychologist's laboratory might be a room with one-way mirrors and hidden cameras in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molecular Biology
Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactions. Though cells and other microscopic structures had been observed in living organisms as early as the 18th century, a detailed understanding of the mechanisms and interactions governing their behavior did not emerge until the 20th century, when technologies used in physics and chemistry had advanced sufficiently to permit their application in the biological sciences. The term 'molecular biology' was first used in 1945 by the English physicist William Astbury, who described it as an approach focused on discerning the underpinnings of biological phenomena—i.e. uncovering the physical and chemical structures and properties of biological molecules, as well as their interactions with other molecules and how these interactions explain observ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Abnormality
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by te ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Insertion (genetics)
In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence. This can often happen in Microsatellite (genetics), microsatellite regions due to the DNA polymerase slipping. Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA sequence to a section of one chromosome inserted into another. The mechanism of the smallest single base insertion mutations is believed to be through base-pair separation between the template and primer strands followed by non-neighbor base stacking, which can occur locally within the DNA polymerase active site. On a chromosome level, an ''insertion'' refers to the insertion of a larger sequence into a chromosome. This can happen due to unequal Chromosomal crossover, crossover during meiosis. N region addition is the addition of non-coded nucleotides during genetic recombination, recombination by terminal deoxynucleotidyl transferase. P nucleotide ins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Abnormalities
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Copy-number Variation
Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. Approximately two-thirds of the entire human genome may be composed of repeats and 4.8–9.5% of the human genome can be classified as copy number variations. In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype. Copy number variations can be generally categorized into two main groups: short repeats and long repeats. However, there are no clear boundaries between the two groups and the classification depends on the nature of the loci of interest. Short repeats include mainly dinucleotide repeats (two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. Lon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Inversion
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm. The breakpoints of inversions often happen in regions of repetitive nucleotides, and the regions may be reused in other inversions. Chromosomal segments in inversions can be as small as 1 kilobases or as large as 100 megabases. The number of genes captured by an inversion can range from a handful of genes to hundreds of genes. Inversions can happen either through ectopic recombination between Repeated sequence (DNA), repetitive sequences, or through chromosomal breakage followed by non-homologous end joining. Inversions are of two types: paracentric inversion, paracentric and pericentric inversion, pericentric. Paracentric inversions do not include the centromere, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Copy Number Alteration Modified ESP
Copy may refer to: *Copying or the product of copying (including the plural "copies"); the duplication of information or an artifact **Cut, copy and paste, a method of reproducing text or other data in computing **File copying **Photocopying, a process which makes paper copies of documents and other visual images **Fax, a telecommunications technology used to transfer facsimile copies of documents, especially over the telephone network **Facsimile, a copy or reproduction that is as true to the original source as possible **Replica, a copy closely resembling the original concerning its shape and appearance **Term of art in U.S. copyright law meaning a material object in which a work of authorship has been embodied, such as a book * Copy (command), a shell command on DOS and Windows systems *Copy (publishing), written content in publications, in contrast to photographs or other elements of layout. **The output of journalists and authors, ready for copy editing and typesetting **The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Structural Aberration PEM Modified
A structure is an arrangement and organization of interrelated elements in a material object or system, or the object or system so organized. Material structures include man-made objects such as buildings and machines and natural objects such as biological organisms, minerals and chemicals. Abstract structures include data structures in computer science and musical form. Types of structure include a hierarchy (a cascade of one-to-many relationships), a network featuring many-to-many links, or a lattice featuring connections between components that are neighbors in space. Load-bearing Buildings, aircraft, skeletons, anthills, beaver dams, bridges and salt domes are all examples of load-bearing structures. The results of construction are divided into buildings and non-building structures, and make up the infrastructure of a human society. Built structures are broadly divided by their varying design approaches and standards, into categories including building structures, arch ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
