World populationIn demographics, the world population is the total number of humans currently living. It was estimated by the United Nations to have exceeded eight billion in mid-November 2022. It took over 200,000 years of human prehistory and history for the human population to reach one billion and only 219 years more to reach 8 billion. The human population has experienced continuous growth following the Great Famine of 1315–1317 and the end of the Black Death in 1350, when it was nearly 370,000,000.
Social determinants of healthThe social determinants of health (SDOH) are the economic and social conditions that influence individual and group differences in health status. They are the health promoting factors found in one's living and working conditions (such as the distribution of income, wealth, influence, and power), rather than individual risk factors (such as behavioral risk factors or genetics) that influence the risk for a disease, or vulnerability to disease or injury.
Patient-reported outcomeA patient-reported outcome (PRO) is a health outcome directly reported by the patient who experienced it. It stands in contrast to an outcome reported by someone else, such as a physician-reported outcome, a nurse-reported outcome, and so on. PRO methods, such as questionnaires, are used in clinical trials or other clinical settings, to help better understand a treatment's efficacy or effectiveness. The use of digitized PROs, or electronic patient-reported outcomes (ePROs), is on the rise in today's health research setting.
Background selectionBackground selection describes the loss of genetic diversity at a non-deleterious locus due to negative selection against linked deleterious alleles. It is one form of linked selection, where the maintenance or removal of an allele from a population is dependent upon the alleles in its linkage group. The name emphasizes the fact that the genetic background, or genomic environment, of a neutral mutation has a significant impact on whether it will be preserved (genetic hitchhiking) or purged (background selection) from a population.
Early human migrationsEarly human migrations are the earliest migrations and expansions of archaic and modern humans across continents. They are believed to have begun approximately 2 million years ago with the early expansions out of Africa by Homo erectus. This initial migration was followed by other archaic humans including H. heidelbergensis, which lived around 500,000 years ago and was the likely ancestor of Denisovans and Neanderthals as well as modern humans. Early hominids had likely crossed land bridges that have now sunk.
Population growthPopulation growth is the increase in the number of people in a population or dispersed group. Actual global human population growth amounts to around 83 million annually, or 1.1% per year. The global population has grown from 1 billion in 1800 to 7.9 billion in 2020. The UN projected population to keep growing, and estimates have put the total population at 8.6 billion by mid-2030, 9.8 billion by mid-2050 and 11.2 billion by 2100.
EpistasisEpistasis is a phenomenon in genetics in which the effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes, respectively termed modifier genes. In other words, the effect of the mutation is dependent on the genetic background in which it appears. Epistatic mutations therefore have different effects on their own than when they occur together. Originally, the term epistasis specifically meant that the effect of a gene variant is masked by that of a different gene.
Human variabilityHuman variability, or human variation, is the range of possible values for any characteristic, physical or mental, of human beings. Frequently debated areas of variability include cognitive ability, personality, physical appearance (body shape, skin color, etc.) and immunology. Variability is partly heritable and partly acquired (nature vs. nurture debate). As the human species exhibits sexual dimorphism, many traits show significant variation not just between populations but also between the sexes.
Genealogical DNA testA genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically.
Genetic testingGenetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.
Clinical data acquisitionAcquisition or collection of clinical trial data can be achieved through various methods that may include, but are not limited to, any of the following: paper or electronic medical records, paper forms completed at a site, interactive voice response systems, local electronic data capture systems, or central web based systems. There is arguably no more important document than the instrument that is used to acquire the data from the clinical trial with the exception of the protocol, which specifies the conduct of that clinical trial.
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.
