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Personal Genomics
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk. Automated high-throughput sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer whole genome sequencing including interpretation to consumers since 2015 for less than $1,000. The emerging market of direct-to-consumer genome sequencing services has brought new questions about both the medical efficacy and the ethical dilemmas associated with widespread knowledge of individual genetic information. In personali ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Branch
A branch, also called a ramus in botany, is a stem that grows off from another stem, or when structures like veins in leaves are divided into smaller veins. History and etymology In Old English, there are numerous words for branch, including , , , and . There are also numerous descriptive words, such as (that is, something that has bled, or 'bloomed', out), (literally 'little bough'), (literally 'on growth'), and (literally 'offspringing'). Numerous other words for twigs and boughs abound, including , which still survives as the ''-toe'' in ''mistletoe''. Latin words for branch are or . The latter term is an affix found in other modern words such as '' cladodont'' (prehistoric sharks with branched teeth), ''cladode'' (flattened leaf-like branches), or ''cladogram'' (a branched diagram showing relations among organisms). Woody branches Large branches are known as boughs and small branches are known as twigs. The term ''twig'' usually refers to a terminus, while ''bou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pharmacogenomics
Pharmacogenomics, often abbreviated "PGx," is the study of the role of the genome in drug response. Its name ('' pharmaco-'' + ''genomics'') reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of a patient affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response, by correlating DNA mutations (including point mutations, copy number variations, and structural variations) with pharmacokinetic (drug absorption, distribution, metabolism, and elimination), pharmacodynamic (effects mediated through a drug's biological targets), and/or immunogenic endpoints. Pharmacogenomics aims to develop rational means to optimize drug therapy, with regard to the patients' genotype, to achieve maximum efficiency with minimal adverse effects. It is hoped that by using pharmacogenomics, pharmaceutical drug treatments can deviate from what is dubbed as the "one-dose-fits-all" app ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genotyping
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using bioassay, biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological Population, populations by use of molecular tools. It does not usually involve defining the genes of an individual. Techniques Restriction Fragment Length Polymorphisms A restriction fragment length polymorphism (RFLP) is a variation between different people at sites of the genome recognized by Restriction enzyme, restriction enzymes. DNA containing different restriction sites will be cut by bacterial restriction enzymes differently and this can be seen using gel electrophoresis. When running the sample through, a successfully cleaved sample will contain two bands, while the sample wit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knome
Knome, Inc. was a human genome interpretation company based in Cambridge, Massachusetts. Launched in 2007, Knome focused on improving quality of life by applying insights gained from the interpretation of human genomes. They helped identify and classify the variants, genes, and gene sets that are likely to govern or underlie a specific disease, tumor, or drug response. Their clients included academic, pharmaceutical and medical researchers. In 2015, it was acquired by Tute Genomics. Technology Knome developed technologies that automated many of the manual tasks involved in interpreting whole human genomes. These technologies were designed to address the informatics and workflow bottlenecks that typically hinder whole genome interpretation. The company's core technology, kGAP, was developed in 2009 and served as the foundation for a number of Knome's products and services including the knoSYS® platform. Products and services For academic, pharmaceutical, and medical research ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Illumina (company)
Illumina, Inc. is an American biotechnology company, headquartered in San Diego, California. Incorporated on April 1, 1998, Illumina develops, manufactures, and markets integrated systems for the analysis of genetic variation and biological function. The company provides a line of products and services that serves the sequencing, genotyping and gene expression, and proteomics markets, and serves more than 155 countries. Illumina's customers include genomic research centers, pharmaceutical companies, academic institutions, clinical research organizations, and biotechnology companies. History Illumina was founded in April 1998 by David Walt, Larry Bock, John Stuelpnagel, Anthony Czarnik, and Mark Chee. While working with CW Group, a venture-capital firm, Bock and Stuelpnagel uncovered what would become Illumina's BeadArray technology at Tufts University and negotiated an exclusive license to that technology. In 1999, Illumina acquired Spyder Instruments (founded by Michal Le ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABI SOLiD
SOLiD (Sequencing by Oligonucleotide Ligation and Detection) is a next-generation DNA sequencing technology developed by Life Technologies and has been commercially available since 2006. This next generation technology generates 108 - 109 small sequence reads at one time. It uses 2 base encoding to decode the raw data generated by the sequencing platform into sequence data. This method should not be confused with "sequencing by synthesis," a principle used by Roche-454 pyrosequencing (introduced in 2005, generating millions of 200-400bp reads in 2009), and the Solexa system (now owned by Illumina) (introduced in 2006, generating hundreds of millions of 50-100bp reads in 2009) These methods have reduced the cost from $0.01/base in 2004 to nearly $0.0001/base in 2006 and increased the sequencing capacity from 1,000,000 bases/machine/day in 2004 to more than 5,000,000,000 bases/machine/day in 2009. Over 30 publications exist describing its use first for nucleosome positionin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Applied Biosystems
Applied Biosystems is one of various brands under the Life Technologies brand of Thermo Fisher Scientific corporation. The brand is focused on integrated systems for genetic analysis, which include computerized machines and the consumables used within them (such as reagents). In 2008, a merger between Applied Biosystems and Invitrogen was finalized, creating Life Technologies. The latter was acquired by Thermo Fisher Scientific in 2014. Prior to 2008, the Applied Biosystems brand was owned by various entities in a corporate group parented by PerkinElmer. The roots of Applied Biosystems trace back to GeneCo (Genetic Systems Company), a pioneer biotechnology company founded in 1981 in Foster City, California.Applied Biosystems Timeline , AppliedBiosystems.com Through the 1980s and early 19 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Base Pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA and RNA. Dictated by specific hydrogen bonding patterns, "Watson–Crick" (or "Watson–Crick–Franklin") base pairs (guanine–cytosine and adenine–thymine) allow the DNA helix to maintain a regular helical structure that is subtly dependent on its nucleotide sequence. The Complementarity (molecular biology), complementary nature of this based-paired structure provides a Redundancy (information theory), redundant copy of the genetic information encoded within each strand of DNA. The regular structure and data redundancy provided by the DNA double helix make DNA well suited to the storage of genetic information, while base-pairing between DNA and incoming nucleotides provides the mechanism through which DNA polymerase replicates DNA and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA Sequencing
DNA 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, thymine, cytosine, and guanine. 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, Genographic Project, DNA Genographic Projects and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology and biological systematics. Comparing healthy and mutated DNA sequences can diagnose different diseases including various cancers, characterize antibody repertoire, and can be used to guide patient treatment. Having a quick way to sequence DNA allows for faster and more individualized medical care to be administered, and for more organisms to be identified and cataloged. The rapid advancements in DNA seque ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cost Per Genome
Cost is the value of money that has been used up to produce something or deliver a service, and hence is not available for use anymore. In business, the cost may be one of acquisition, in which case the amount of money expended to acquire it is counted as cost. In this case, money is the input that is gone in order to acquire the thing. This acquisition cost may be the sum of the cost of production as incurred by the original producer, and further costs of transaction as incurred by the acquirer over and above the price paid to the producer. Usually, the price also includes a mark-up for profit over the cost of production. More generalized in the field of economics, cost is a metric that is totaling up as a result of a process or as a differential for the result of a decision. Hence cost is the metric used in the standard modeling paradigm applied to economic processes. Costs (pl.) are often further described based on their timing or their applicability. Types of accountin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
