Human Genome ProjectThe 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 for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990.
Elective genetic and genomic testingElective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order.
GenomicsGenomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism.
Whole genome sequencingWhole 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 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.
Reference genomeA reference genome (also known as a reference assembly) is a digital nucleic acid sequence database, assembled by scientists as a representative example of the set of genes in one idealized individual organism of a species. As they are assembled from the sequencing of DNA from a number of individual donors, reference genomes do not accurately represent the set of genes of any single individual organism. Instead a reference provides a haploid mosaic of different DNA sequences from each donor.
Comparative genomicsComparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms.
Health equityHealth equity arises from access to the social determinants of health, specifically from wealth, power and prestige. Individuals who have consistently been deprived of these three determinants are significantly disadvantaged from health inequities, and face worse health outcomes than those who are able to access certain resources. It is not equity to simply provide every individual with the same resources; that would be equality. In order to achieve health equity, resources must be allocated based on an individual need-based principle.
BioinformaticsBioinformatics (ˌbaɪ.oʊˌɪnfɚˈmætɪks) is an interdisciplinary field of science that develops methods and software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, chemistry, physics, computer science, computer programming, information engineering, mathematics and statistics to analyze and interpret biological data. The subsequent process of analyzing and interpreting data is referred to as computational biology.
Big Five personality traitsThe Big Five personality traits is a suggested taxonomy, or grouping, for personality traits, developed from the 1980s onward in psychological trait theory. Starting in the 1990s, the theory identified five factors by labels, for the US English population, typically referred to as: openness to experience (inventive/curious vs. consistent/cautious) conscientiousness (efficient/organized vs. extravagant/careless) extraversion (outgoing/energetic vs. solitary/reserved) agreeableness (friendly/compassionate vs.
Comparative genomic hybridizationComparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome).
Right to privacyThe right to privacy is an element of various legal traditions that intends to restrain governmental and private actions that threaten the privacy of individuals. Over 150 national constitutions mention the right to privacy. On 10 December 1948, the United Nations General Assembly adopted the Universal Declaration of Human Rights (UDHR), originally written to guarantee individual rights of everyone everywhere; while right to privacy does not appear in the document, many interpret this through Article 12, which states: "No one shall be subjected to arbitrary interference with his privacy, family, home or correspondence, nor to attacks upon his honour and reputation.
Genetic discriminationGenetic discrimination occurs when people treat others (or are treated) differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination.
Gene predictionIn computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes. This includes protein-coding genes as well as RNA genes, but may also include prediction of other functional elements such as regulatory regions. Gene finding is one of the first and most important steps in understanding the genome of a species once it has been sequenced. In its earliest days, "gene finding" was based on painstaking experimentation on living cells and organisms.
Personal dataPersonal data, also known as personal information or personally identifiable information (PII), is any information related to an identifiable person. The abbreviation PII is widely accepted in the United States, but the phrase it abbreviates has four common variants based on personal or personally, and identifiable or identifying. Not all are equivalent, and for legal purposes the effective definitions vary depending on the jurisdiction and the purposes for which the term is being used.
Trait theoryIn psychology, trait theory (also called dispositional theory) is an approach to the study of human personality. Trait theorists are primarily interested in the measurement of traits, which can be defined as habitual patterns of behavior, thought, and emotion. According to this perspective, traits are aspects of personality that are relatively stable over time, differ across individuals (e.g. some people are outgoing whereas others are not), are relatively consistent over situations, and influence behaviour.
HealthIn common usage and medicine, health, according to the World Health Organization, is "a state of complete physical, mental and social well-being and not merely the absence of disease and infirmity". A variety of definitions have been used for different purposes over time. Health can be promoted by encouraging healthful activities, such as regular physical exercise and adequate sleep, and by reducing or avoiding unhealthful activities or situations, such as smoking or excessive stress.
Socioeconomic statusSocioeconomic status (SES) is an economic and sociological combined total measure of a person's work experience and of an individual's or family's economic access to resources and social position in relation to others. When analyzing a family's SES, the household income, earners' education, and occupation are examined, as well as combined income, whereas for an individual's SES only their own attributes are assessed. Recently, research has revealed a lesser recognized attribute of SES as perceived financial stress, as it defines the "balance between income and necessary expenses".
Computational biologyComputational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, and big data, the field also has foundations in applied mathematics, chemistry, and genetics. It differs from biological computing, a subfield of computer engineering which uses bioengineering to build computers. Bioinformatics, the analysis of informatics processes in biological systems, began in the early 1970s.
Social statusSocial status is the relative level of social value a person is considered to possess. Such social value includes respect, honor, assumed competence, and deference. On one hand, social scientists view status as a "reward" for group members who treat others well and take initiative. This is one explanation for its apparent cross-cultural universality. On the other hand, while people with higher status experience a litany of benefits--such as greater health, admiration, resources, influence, and freedom--those with lower status experience poorer outcomes across all of those metrics.
