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Phenome
A phenome, similar to phenotype, is the set of all traits expressed by a cell, tissue, organ, organism, or species. Just as the genome and proteome signify all of an organism's genes and proteins, the phenome represents the sum of its phenotypic traits. Examples of human phenotypic traits are skin color, eye color, body height, or specific personality characteristics. Although any phenotype of any organism has a basis in its genotype, phenotypic expression may be influenced by environmental influences, mutation, and genetic variation such as single nucleotide polymorphisms (SNPs), or a combination of these factors. Phenomics is the study of the phenome and how it is determined, particularly when studied in relation to the set of all genes (genomics) or all proteins ( proteomics). Origin and usage The term was first used by Davis in 1949, "We here propose the name ''phenome'' for the sum total of extragenic, non-autoreproductive portions of the cell, whether cytoplasmic o ...
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Phenome-wide Association Study
In genetics and genetic epidemiology, a phenome-wide association study, abbreviated PheWAS, is a study design in which the association between single-nucleotide polymorphisms or other types of DNA variants is tested across a large number of different phenotypes. The aim of PheWAS studies (or PheWASs) is to examine the causal linkage between known sequence differences and any type of trait, including molecular, biochemical, cellular, and especially clinical diagnoses and outcomes. It is a complementary approach to the genome-wide association study, or GWAS, methodology. A fundamental difference between GWAS and PheWAS designs is the direction of inference: in a PheWAS it is from exposure (the DNA variant) to many possible outcomes, that is, from SNPs to differences in phenotypes and disease risk. In a GWAS, the polarity of analysis is from one or a few phenotypes to many possible DNA variants. The approach has proven useful in rediscovering previously reported genotype-phenotype ass ...
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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 ...
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List Of Omics Topics In Biology
Inspired by the terms genome and genomics, other words to describe complete biological datasets, mostly sets of biomolecules originating from one organism, have been coined with the suffix ''-ome'' and ''- omics''. Some of these terms are related to each other in a hierarchical fashion. For example, the genome contains the ORFeome, which gives rise to the transcriptome, which is translated to the proteome. Other terms are overlapping and refer to the structure and/or function of a subset of proteins (e.g. glycome, kinome). An omicist is a scientist who studies omeomics, cataloging all the “omics” subfields. Omics.org is a Wiki that collects and alphabetically lists all the known "omes" and "omics." List of topics Hierarchy of topics For the sake of clarity, some topics are listed more than once. * Bibliome * Connectome * Cytome *Editome *Embryome * Epigenome ** Methylome *Exposome **Envirome *** Toxome ** Foodome **Microbiome ** Sociome *Genome ** Variome ** Exome ...
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Systems Biology
Systems biology is the computational modeling, computational and mathematical analysis and modeling of complex biological systems. It is a biology-based interdisciplinary field of study that focuses on complex interactions within biological systems, using a holistic approach (holism instead of the more traditional reductionist, reductionism) to biological research. Particularly from the year 2000 onwards, the concept has been used widely in biology in a variety of contexts. The Human Genome Project is an example of applied systems thinking in biology which has led to new, collaborative ways of working on problems in the biological field of genetics. One of the aims of systems biology is to model and discover emergent property, emergent properties, properties of cell (biology), cells, tissue (biology), tissues and organisms functioning as a system whose theoretical description is only possible using techniques of systems biology. These typically involve metabolic networks or cell ...
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Proceedings Of The National Academy Of Sciences Of The United States Of America
''Proceedings of the National Academy of Sciences of the United States of America'' (often abbreviated ''PNAS'' or ''PNAS USA'') is a peer-reviewed multidisciplinary scientific journal. It is the official journal of the National Academy of Sciences, published since 1915, and publishes original research, scientific reviews, commentaries, and letters. According to '' Journal Citation Reports'', the journal has a 2021 impact factor of 12.779. ''PNAS'' is the second most cited scientific journal, with more than 1.9 million cumulative citations from 2008 to 2018. In the mass media, ''PNAS'' has been described variously as "prestigious", "sedate", "renowned" and "high impact". ''PNAS'' is a delayed open access journal, with an embargo period of six months that can be bypassed for an author fee ( hybrid open access). Since September 2017, open access articles are published under a Creative Commons license. Since January 2019, ''PNAS'' has been online-only, although print issues a ...
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Jackson Laboratory
The Jackson Laboratory (often abbreviated as JAX) is an independent, non-profit biomedical research institution which was founded by a eugenicist. It employs more than 3,000 employees in Bar Harbor, Maine; Sacramento, California; Farmington, Connecticut; Shanghai, China; and Yokohama, Japan. The institution is a National Cancer Institute-designated Cancer Center and has NIH Centers of Excellence in aging and systems genetics. The mission of The Jackson Laboratory is "to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community." The laboratory is also the world's source for more than 8,000 strains of genetically defined mice, home of the Mouse Genome Informatics database, and is an international hub for scientific courses, conferences, training and education. Major research areas Jackson Laboratory's research, represented by the activities of more than 60 laboratories, performs r ...
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Physiomics
Physiomics is a systematic study of physiome in biology. Physiomics employs bioinformatics to construct networks of physiological features that are associated with genes, proteins and their networks. A few of the methods for determining individual relationships between the DNA sequence and physiological function include metabolic pathway engineering and RNAi analysis. The relationships derived from methods such as these are organized and processed computationally to form distinct networks. Computer models use these experimentally determined networks to develop further predictions of gene function. History Physiomics arose from the imbalance between the amount of data being generated by genome projects and the technological ability to analyze the data on a large scale. As technologies such as high-throughput sequencing were being used to generate large amounts of genomic data, effective methods needed to be designed to experimentally interpret and computationally organize this data ...
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Physiome
The physiome of an individual's or species' physiological state is the description of its functional behavior. The physiome describes the physiological dynamics of the normal intact organism and is built upon information and structure (genome, proteome, and morphome). The term comes from "physio-" (nature) and "-ome" (as a whole). The concept of a physiome project was presented to the International Union of Physiological Sciences (IUPS) by its Commission on Bioengineering in Physiology in 1993. A workshop on designing the Physiome Project was held in 1997. At its world congress in 2001, the IUPS designated the project as a major focus for the next decade. The project is led by the Physiome Commission of the IUPS. Other research initiatives related to the physiome include: *The EuroPhysiome Initiative *The NSR Physiome Project of the National Simulation Resource (NSR) at the University of Washington, supporting the IUPS Physiome Project *The Wellcome Trust Heart Physiome Project, a ...
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Bioinformatics
Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combines biology, chemistry, physics, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for '' in silico'' analyses of biological queries using computational and statistical techniques. Bioinformatics includes biological studies that use computer programming as part of their methodology, as well as specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidates genes and single nucleotide polymorphisms ( SNPs). Often, such identification is made with the aim to better understand the genetic basis of disease, unique adaptations, desirable propertie ...
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Biobanks
A biobank is a type of biorepository that stores biological samples (usually human) for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine. Biobanks can give researchers access to data representing a large number of people. Samples in biobanks and the data derived from those samples can often be used by multiple researchers for cross purpose research studies. For example, many diseases are associated with single-nucleotide polymorphisms. Genome-wide association studies using data from tens or hundreds of thousands of individuals can identify these genetic associations as potential disease biomarkers. Many researchers struggled to acquire sufficient samples prior to the advent of biobanks. Biobanks have provoked questions on privacy, research ethics, and medical ethics. Viewpoints on what constitutes appropriate biobank ethics diverge. However, a consensus has been ...
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Electronic Health 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 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 ass ...
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Neuroscience (journal)
''Neuroscience'' is a peer-reviewed scientific journal of neuroscience. It was established in 1976 with P.G. Kostyuk, Rodolfo Llinás, and A.D. Smith as founding editors-in-chief and originally published by Pergamon Press. The current editor-in-chief is Juan Lerma Gómez (Spanish National Research Council). The journal is published by Elsevier on behalf of the International Brain Research Organization (IBRO). The journal continues the IBRO News section formerly published in '' Brain Research''. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', ''Neuroscience'' 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 ... of 3.590. Notable articles , the following articles are the most downloaded accor ...
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