|
Genomic And Medical Data
Genomic and medical data refers to an area within genetics that concerns the recording, sequencing and analysis of an organism's genome. Background Genomics is a concept that was first developed by Fred Sanger who first sequenced the complete genome of a virus and of a mitochondrion. The term genomics was first coined in 1986 by Tom Roderick, a geneticist at the Jackson Laboratory in Maine, during a meeting about the mapping of the human genome. The genome is the entire DNA content that is present within one cell of an organism. Experts in genomics strive to determine consummate DNA sequences and perform genetic mapping to help understand disease. Genomics involves the study of all genes at the DNA (deoxyribonucleic Acid), mRNA (messenger ribonucleic acid), and proteome level as well as the cellular or tissue level. Open source tools for medical data OMOP: It is an acronym for Observational Medical Outcomes Partnership. The OMOP research program was initially established unde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Common Data Model
A common data model (CDM) can refer to any standardised data model which allows for data and information exchange between different applications and data sources. Common data models aim to standardise logical infrastructure so that related applications can "operate on and share the same data", and can be seen as a way to "organize data from many sources that are in different formats into a standard structure". A common data model has been described as one of the components of a " strong information system". A standardised common data model has also been described as a typical component of a well designed agile application besides a common communication protocol. Providing a single common data model within an organisation is one of the typical tasks of a data warehouse. Examples of common data models Border crossings X-trans.eu was a cross-border pilot project between the Free State of Bavaria (Germany) and Upper Austria with the aim of developing a faster procedure for the ap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome Project
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the United States government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genotype
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous. Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. Howev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OpenEHR
openEHR is an open standard specification in health informatics that describes the management and storage, retrieval and exchange of health data in electronic health records (EHRs). In openEHR, all health data for a person is stored in a "one lifetime", vendor-independent, person-centred EHR. The openEHR specifications include an EHR Extract specification but are otherwise not primarily concerned with the exchange of data between EHR-systems as this is the focus of other standards such as EN 13606 and HL7. The openEHR specifications are maintained by the openEHR Foundation, a not for profit foundation supporting the open research, development, and implementation of openEHR EHRs. The specifications are based on a combination of 15 years of European and Australian research and development into EHRs and new paradigms, including what has become known as the archetype methodology for specification of content. The openEHR specifications include information and service models for the EHR, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Open-source Software
Open-source software (OSS) is computer software that is released under a license in which the copyright holder grants users the rights to use, study, change, and distribute the software and its source code to anyone and for any purpose. Open-source software may be developed in a collaborative public manner. Open-source software is a prominent example of open collaboration, meaning any capable user is able to participate online in development, making the number of possible contributors indefinite. The ability to examine the code facilitates public trust in the software. Open-source software development can bring in diverse perspectives beyond those of a single company. A 2008 report by the Standish Group stated that adoption of open-source software models has resulted in savings of about $60 billion per year for consumers. Open source code can be used for studying and allows capable end users to adapt software to their personal needs in a similar way user scripts an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Observational Health Data Sciences And Informatics
Observation is the active acquisition of information from a primary source. In living beings, observation employs the senses. In science, observation can also involve the perception and recording of data via the use of scientific instruments. The term may also refer to any data collected during the scientific activity. Observations can be qualitative, that is, only the absence or presence of a property is noted, or quantitative if a numerical value is attached to the observed phenomenon by counting or measuring. Science The scientific method requires observations of natural phenomena to formulate and test hypotheses. It consists of the following steps: # Ask a question about a natural phenomenon # Make observations of the phenomenon # Formulate a hypothesis that tentatively answers the question # Predict logical, observable consequences of the hypothesis that have not yet been investigated # Test the hypothesis' predictions by an experiment, observational study, field study, or s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electronic Health Record
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 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 information to assi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
