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Translational Bioinformatics
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes. History Translational bioinformatics is a relatively young field within translational research. Google trends indicate the use of " bioinformatics" ...
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Health Informatics
Health informatics is the field of science and engineering that aims at developing methods and technologies for the acquisition, processing, and study of patient data, which can come from different sources and modalities, such as electronic health records, diagnostic test results, medical scans. The health domain provides an extremely wide variety of problems that can be tackled using computational techniques. Health informatics is a spectrum of multidisciplinary fields that includes study of the design, development and application of computational innovations to improve health care. The disciplines involved combines medicine fields with computing fields, in particular computer engineering, software engineering, information engineering, bioinformatics, bio-inspired computing, theoretical computer science, information systems, data science, information technology, autonomic computing, and behavior informatics. In academic institutions, medical informatics research focus on a ...
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Gene Expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. These products are often proteins, but in non-protein-coding genes such as transfer RNA (tRNA) and small nuclear RNA (snRNA), the product is a functional non-coding RNA. Gene expression is summarized in the central dogma of molecular biology first formulated by Francis Crick in 1958, further developed in his 1970 article, and expanded by the subsequent discoveries of reverse transcription and RNA replication. The process of gene expression is used by all known life—eukaryotes (including multicellular organisms), prokaryotes (bacteria and archaea), and utilized by viruses—to generate the macromolecular machinery for life. In genetics, gene expression is the most fundamental level at which the genotype gives rise to the phenotype, '' ...
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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, 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. 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 speed of sequencing attained with modern D ...
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Genome
In the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as regulatory sequences (see non-coding DNA), and often a substantial fraction of 'junk' DNA with no evident function. Almost all eukaryotes have mitochondria and a small mitochondrial genome. Algae and plants also contain chloroplasts with a chloroplast genome. The study of the genome is called genomics. The genomes of many organisms have been sequenced and various regions have been annotated. The International Human Genome Project reported the sequence of the genome for ''Homo sapiens'' in 200The Human Genome Project although the initial "finished" sequence was missing 8% of the genome consisting mostly of repetitive sequences. With advancements in technology that could handle sequenci ...
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National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transitioned to the National Center for Human Genome Research (NCHGR), in 1989 to carry out the role of the NIH in the International Human Genome Project (HGP). The HGP was developed in collaboration with the United States Department of Energy (DOE) and began in 1990 to sequence the human genome. In 1993, NCHGR expanded its role on the NIH campus by establishing the Division of Intramural Research (DIR) to apply genome technologies to the study of specific diseases. In 1996, the Center for Inherited Disease Research (CIDR) was also established (co-funded by eight NIH institutes and centers) to study the genetic components of complex disorders. In 1997 the United States Department of Health and Human Services (DHHS) renamed NCHGR the National Hum ...
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Whole Genome Sequencing
Whole 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 mitochondrial DNA, 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. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention. The tool of DNA sequencing, gene sequencing at Single-nucleotide polymorphism, SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response. ...
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Electronic Medical Records
An electronic health record (EHR) is the systematized collection of patient and population electronically stored health information in a digital format. These records can be shared across different health care settings. Records are shared through network-connected, enterprise-wide information systems or other information networks and exchanges. EHRs may include a range of data, including demographics, medical history, medication and Allergy, allergies, immunization status, laboratory test results, radiology images, vital signs, personal statistics like age and weight, and billing information. For several decades, electronic health records (EHRs) have been touted as key to increasing of quality care. Electronic health records are used for other reasons than charting for patients; today, providers are using data from patient records to improve quality outcomes through their care management programs. EHR combines all patients demographics into a large pool, and uses this informatio ...
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Decision Support Systems
A decision support system (DSS) is an information system that supports business or organizational decision-making activities. DSSs serve the management, operations and planning levels of an organization (usually mid and higher management) and help people make decisions about problems that may be rapidly changing and not easily specified in advance—i.e. unstructured and semi-structured decision problems. Decision support systems can be either fully computerized or human-powered, or a combination of both. While academics have perceived DSS as a tool to support decision making processes, DSS users see DSS as a tool to facilitate organizational processes. Some authors have extended the definition of DSS to include any system that might support decision making and some DSS include a decision-making software component; Sprague (1980)Sprague, R;(1980).A Framework for the Development of Decision Support Systems" MIS Quarterly. Vol. 4, No. 4, pp.1-25. defines a properly termed DSS as ...
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Knowledge Extraction
Knowledge extraction is the creation of knowledge from structured (relational databases, XML) and unstructured (text, documents, images) sources. The resulting knowledge needs to be in a machine-readable and machine-interpretable format and must represent knowledge in a manner that facilitates inferencing. Although it is methodically similar to information extraction ( NLP) and ETL (data warehouse), the main criterion is that the extraction result goes beyond the creation of structured information or the transformation into a relational schema. It requires either the reuse of existing formal knowledge (reusing identifiers or ontologies) or the generation of a schema based on the source data. The RDB2RDF W3C group is currently standardizing a language for extraction of resource description frameworks (RDF) from relational databases. Another popular example for knowledge extraction is the transformation of Wikipedia into structured data and also the mapping to existing knowledge ...
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Data Integration
Data integration involves combining data residing in different sources and providing users with a unified view of them. This process becomes significant in a variety of situations, which include both commercial (such as when two similar companies need to merge their databases) and scientific (combining research results from different bioinformatics repositories, for example) domains. Data integration appears with increasing frequency as the volume (that is, big data) and the need to share existing data explodes. It has become the focus of extensive theoretical work, and numerous open problems remain unsolved. Data integration encourages collaboration between internal as well as external users. The data being integrated must be received from a heterogeneous database system and transformed to a single coherent data store that provides synchronous data across a network of files for clients. A common use of data integration is in data mining when analyzing and extracting informati ...
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Bioinformatics (journal)
''Bioinformatics'' (sometimes called ''Bioinformatics Oxford journal'') is a biweekly peer-reviewed scientific journal covering research and software in bioinformatics and computational biology. It is the official journal of the International Society for Computational Biology (ISCB), together with ''PLOS Computational Biology''. Authors can pay extra for open access and are allowed to self-archive after 1 year. The journal was established as ''Computer Applications in the Biosciences'' (''CABIOS'') in 1985. The founding editor-in-chief was Robert J. Beynon. In 1998, the journal obtained its current name and established an online version of the journal. It is published by Oxford University Press and, as of 2014, the editors-in-chief are Alfonso Valencia and Janet Kelso. Previous editors include Chris Sander, Gary Stormo, Christos Ouzounis, Martin Bishop, and Alex Bateman. In 2014, these five editors were appointed the first Honorary Editors of ''Bioinformatics''. According to the ...
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BMC Bioinformatics
''BMC Bioinformatics'' is a peer-reviewed open access scientific journal covering bioinformatics and computational biology published by BioMed Central. It was established in 2000, and has been one of the fastest growing and most successful journals in the '' BMC Series'' of journals, publishing 1,000 articles in its first five years. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 3.169. References External links *{{Official website, http://www.biomedcentral.com/bmcbioinformatics/ BioMed Central academic journals Bioinformatics and computational biology journals Creative Commons Attribution-licensed journals Publication ...
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