Books on the topic 'Allele variances'
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1
Walsh, Bruce, and Michael Lynch. Short-term Changes in the Variance: 1. Changes in the Additive Variance. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0016.
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Selection changes the additive-genetic variance (and hence the response in the mean) by both changing allele frequencies and by generating correlations among alleles at different loci (linkage disequilibrium). Such selection-induced correlations can be generated even between unlinked loci, and (generally) are negative, such that alleles increasing trait values tend to become increasingly negative correlated under direction or stabilizing selection, and positively correlated under disruptive selection. Such changes in the additive-genetic variance from disequilibrium is called the Bulmer effects. For a large number of loci, the amount of change can be predicted from the Bulmer equation, the analog of the breeder's equation, but now for the change in the variance. Upon cessation of selection, any disequilibrium decays away, and the variances revert back to their additive-genic variances (the additive variance in the absence of disequilibrium). Assortative mating also generates such disequilibrium.
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Walsh, Bruce, and Michael Lynch. Analysis of Short-term Selection Experiments: 2. Mixed-model and Bayesian Approaches. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0019.
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When the full pedigree of individuals whose values (records) were used in the selection decisions during an experiment (or breeding program) is known, LS analysis can be replaced by mixed models and their Bayesian extensions. In this setting, REML can be used to estimate genetic variances and BLUP can be used to estimate the mean breeding value in any given generation. The latter allows for genetic trends to be separated from environmental trends without the need for a control population. Under the infinitesimal model setting (wherein selection-induced allele-frequency changes are small during the course of the experiment), the use of the relationship matrix in a BLUP analysis accounts for drift, nonrandom mating, and linkage disequilibrium.
3
Apolipoprotein E (ApoE) allelic variants: Involvement in type 2 dibetes. Ottawa: National Library of Canada, 2003.
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4
Haiman, Christopher, and David J. Hunter. Genetic Epidemiology of Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0004.
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This chapter explores the genetic epidemiology of cancer: the identification and quantification of inherited genetic factors, and their potential interaction with the environment, in the etiology of cancer in human populations. It also describes the techniques used to identify genetic variants that contribute to cancer susceptibility. It describes the older research methods for identifying the chromosomal localization of high-risk predisposing genes, such as linkage analysis within pedigrees and allele-sharing methods, as it is important to understand the foundations of the field. It also reviews the epidemiologic study designs that can be helpful in identifying low-risk alleles in candidate gene and genome-wide association studies, as well as gene–environment interactions. Finally, it describes some of the genotyping and sequencing platforms commonly employed for high-throughput genome analysis, and the concept of Mendelian randomization and how it may be useful in the study of biomarkers and environmental causes of cancer.
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Walsh, Bruce, and Michael Lynch. The Infinitesimal Model and Its Extensions. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0024.
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One standard approximation in quantitative genetics is the infinitesimal model, which assumes a large number of loci, each of small effect. In such a setting, the distribution of breeding values in unselected descendants is roughly multivariate normal and most of the (short-term) change in the additive variance under selection is through Bulmer effects (the generation of linkage disequilibrium) rather than by allele-frequency change. A variety of different infinitesimal models are found in the literature, and this chapter examines these different versions and the connections between them. It also examines the theory for moving beyond the infinitesimal approximation. Finally, this chapter shows that the much-debated worry over “missing heritability” simply follows under the infinitesimal setting.
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Cazeneuve, Cécile, and Alexandra Durr. Genetic and Molecular Studies. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0006.
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Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate alleles. Correlation between CAG length and age of onset accounts for up to 72% of the variance in different populations, but the search for genes modifying age of onset or progression of HD is still ongoing.
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Hegel, Georg Wilhelm Friedrich. Vorlesungen über die Philosophie der Religion und Vorlesungen über die Beweise vom Dasein Gottes II. Felix Meiner Verlag, 2021. http://dx.doi.org/10.28937/978-3-7873-3735-4.
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Dieser Band umfasst zum einen den Text von Hegels Kolleg zur Philosophie der Religion des Jahres 1827, in dem Hegel gegenüber dem vorhergehenden Kolleg von 1824 tiefgreifende Änderungen vorgenommen hat, und ferner die allein überlieferten Auszüge aus einer Nachschrift des Religionsphilosophie-Kollegs von 1831. Ergänzt werden diese beiden Textgruppen durch Sondergut der ›Freundesvereinsausgabe‹, das in den heute vorhandenen Quellen nicht mehr enthalten ist. Zum anderen enthält der Band eine hier erstmals edierte vollständige Nachschrift zu Hegels Kolleg über die Beweise vom Dasein Gottes aus dem Sommersemester 1829, mit Varianten einer bereits bekannten Nachschrift desselben Kollegs.
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Barr, Christina S. Gene-by-Environment Interactions in Primates. Edited by Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.006.
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Because of their complex social structures, behaviors, and genetic similarities to humans, nonhuman primates are useful for studying how genetic factors influence alcohol consumption. The neurobiological systems that influence addiction vulnerability may do so by acting on alcohol response, reward pathways, behavioral dyscontrol, and vulnerability to stress and anxiety. Rhesus macaques show individual differences in alcohol response and temperament, and such differences are influenced by genetic variants that are similar functionally to those present in humans. Genes in which variation moderates these phenotypes provide opportunities for modeling how genetic and environmental factors (i.e., stress exposure, individual’s sex, or alcohol response) interact to influence alcohol consumption. Studies in primates may also reveal selective factors that have driven maintenance or fixation of alleles that increase risk for alcohol use disorders in modern humans.
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Collin, Peter, Gert Bender, Stefan Ruppert, Margrit Seckelmann, and Michael Stolleis, eds. Selbstregulierung im 19. Jahrhundert – zwischen Autonomie und Steuerungsansprüchen. Klostermann, 2013. http://dx.doi.org/10.5771/9783465141228.
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Regulierte Selbstregulierung ist mittlerweile zu einem Schlüsselbegriff der rechts- und politikwissenschaftlichen Diskussion geworden. Man findet sie heute in vielerlei Gestalt. Gemeinsam ist allen Varianten eine Kombination aus einem staatlichen Steuerungsanteil und einem Eigenregulierungsanteil der gesellschaftlichen Akteure. Die historischen Dimensionen Regulierter Selbstregulierung, ihrer rechtlichen Ausformungen, aber auch ihrer ökonomischen, kulturellen und sozialpolitischen Kontexte herauszuarbeiten, ist die Aufgabe des am Max-Planck-Institut für europäische Rechtsgeschichte angesiedelten Projekts "Regulierte Selbstregulierung in historischer Perspektive". Dieser Band dokumentiert die Ergebnisse einer Tagung, die vom 9. bis zum 11. Juli 2009 in Bad Homburg stattfand.
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Johansson, Ann-Sofie. Exploring the Functional Plasticity of Human Glutathione Transferases: Allelic Variants, Novel Isoenzyme & Enzyme Redesign (Comprehensive Summaries of ... the Faculty of Science and Technology, 695). Uppsala Universitet, 2002.
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11
Chang, Ellen T., and Hans-Olov Adami. Nasopharyngeal Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0008.
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The distinctive global incidence patterns and risk factors for nasopharyngeal carcinoma (NPC) make this a unique malignancy that represents an epidemiologic challenge. NPC is rare throughout most of the world but relatively common in southern China, Southeast Asia, the Arctic, North Africa, and the Middle East. This pattern is determined in part by the geographic and ethnic distribution of established risk factors for NPC, which include early/aberrant Epstein Barr virus infection, Chinese-style salted fish consumption, family history, certain human leukocyte antigen alleles, and tobacco smoking. Other possible NPC risk factors include certain dietary, occupational, and infectious exposures and genetic variants. Risk factors for NPC in low-incidence regions, where tumors are more often of squamous cell histology than in high-incidence regions, are poorly understood, as are etiologic interactions among genetic, environmental, and infectious risk factors for NPC.
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Goldman, David, Zhifeng Zhou, and Colin Hodgkinson. The Genetic Basis of Addictive Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0042.
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Addictive disorders are moderately to highly heritable, indicating that alleles transmitted from parents are protective, or enhance risk by whatever mechanisms. However, the inheritance of addictive disorders is complex, involving hundreds of genes and variants that are both common and rare, and that vary in effect size and context of action. Genes altering risk for addictions have been identified by pathway and candidate gene studies in humans and model organisms, and genomic approaches including genome-wide association, meiotic linkage, and sequencing. Genes responsible for shared liability to different addictive disorders have been identified, as well as genes that are relatively specific in altering risk of addiction to one agent. An impediment to overarching conclusions is that most of the heritability of addictions is unexplained at the level of gene or functional locus. However, new analytic approaches and tools have created new potentials for resolution of the “missing heritability.”
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Klepper, Joerg, and Baerbel Leiendecker. Glut1 Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0005.
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Glut1 Deficiency (Glut1D, OMIM #606777) is caused by impaired glucose transport into the brain. The resulting cerebral “energy crisis” causes intractable seizures, developmental delay, and a complex movement disorder. The diagnosis is based on clinical features, low CSF glucose and/or mutations in the SLC2A1 gene. Paroxysmal exertion-induced dystonia (PED) and hereditary cryohydrocytosis have been described as allelic variants. Adults are increasingly being recognized through family pedigrees. The condition is effectively treatable by mimicking the metabolic state of fasting. High-fat carbohydrate-restricted ketogenic diets generate ketones that serve as an alternative fuel for the brain. In adults with Glut1D, novel modified ketogenic diets can be used, allowing more carbohydrates and greater palatability and compliance.
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Simonton, Dean Keith. Spontaneity in Evolution, Learning, Creativity, and Free Will. Edited by Kalina Christoff and Kieran C. R. Fox. Oxford University Press, 2018. http://dx.doi.org/10.1093/oxfordhb/9780190464745.013.21.
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This chapter proposes that spontaneous variation has a central role in biological evolution, operant conditioning, creative thinking, and personal agency. But to support these advantageous outcomes, this spontaneity must be joined with some selection process or procedure that decides which alleles, behaviors, ideas, or choices are most adaptive or useful. The argument begins with spontaneous variations in evolutionary theory, and then turns to operant conditioning, with emphasis on the origins of spontaneous behaviors. That analysis leads directly to a discussion that introduces a three-parameter definition of both creativity and sightedness, two concepts that provide the foundation for the blind-variation and selective-retention model of creativity. The latter is then linked with the chance-then-choice theory of free will, a linkage that makes spontaneous choice generation the first of two steps leading to personal agency. In all four phenomena, spontaneity is defined as the production of variants in ignorance of their actual utilities.
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Martelloni, Federico. Lavoro coordinato e subordinazione. Bononia University Press, 2021. http://dx.doi.org/10.30682/sg264.
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A dieci anni dall’introduzione di un istituto molto controverso come il lavoro a progetto, e all’indomani della sua recente rivisitazione, questo studio monografico prova a fornire risposta agli interrogativi che hanno percorso e diviso la dottrina e la giurisprudenza lavoristica alle prese con un nuovo assetto delle forme di lavoro. Dopo aver tracciato una «genealogia» del lavoro autonomo coordinato, l’Autore ne indaga natura e funzione, approfondendo come sua variante oggi dominante le collaborazioni a progetto. All’esito della ricerca, ricca di riscontri comparatistici e applicativi, il coordinamento attivo del collaboratore si presenta non solo come la cifra identificativa di una specifica tipologia di lavoro, ma assume anche un più generale valore paradigmatico. Il lavoro coordinato viene, così, ad interferire con le nozioni archetipiche di autonomia e subordinazione, fino a ridisegnare i contorni della «grande dicotomia» del diritto del lavoro, innovandone nel profondo l’assetto sistemico, in termini più adeguati alle trasformazione intervenute nel quadro economico-produttivo.
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Mariani, Giulia Adalgisa. Varianti anatomiche. Bononia University Press, 2020. http://dx.doi.org/10.30682/alph06.
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Con il termine variante anatomica si definisce una particolare struttura anatomica la cui morfologia si discosta da quella osservata nella maggior parte degli individui. Diversamente dalle anomalie congenite, che per definizione sono considerate patologiche, le varianti rientrano in un quadro di normalità. È però evidente che conformazioni anatomiche peculiari possono interferire con le procedure diagnostiche e aumentare il rischio di complicanze durante gli interventi chirurgici. La conoscenza dell’anatomia umana e lo studio delle sue varianti rappresentano perciò un requisito indispensabile per ogni pratica medica, e l’attività settoria, che consente di individuare e documentare eventuali varianti rispetto alla normale anatomia umana, costituisce un supporto fondamentale alla medicina e alla chirurgia. Il volume propone un excursus storico sulla pratica settoria, una introduzione alle attuali tecniche di dissezione e lo studio di alcune significative varianti anatomiche.
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Collin, Peter, Gerd Bender, and Stefan Ruppert, eds. Regulierte Selbstregulierung in der westlichen Welt des späten 19. und frühen 20. Jahrhunderts. Klostermann, 2014. http://dx.doi.org/10.5771/9783465142294.
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Regulierte Selbstregulierung ist ein Regelungsmechanismus, der private Interessen und staatliche Zwecke zu neuen Aufgabenarrangements vereint. Wenngleich dieses Phänomen vor allem in gegenwartsbezogener Weise beobachtet wird, so lässt es sich doch auch in der Vergangenheit verorten. Der Beobachtungsschwerpunkt lag dabei bisher auf Deutschland, das eine spezielle Tradition der staatlichen Einbindung intermediärer Kräfte vorweisen kann. Andererseits lassen sich ab Ende des 19. Jahrhunderts in vielen westlichen Gesellschaften interventionsstaatliche Schübe verzeichnen. In ihrem Zuge wurden bestehende staatliche Aufgabenfelder erweitert und neue hervorgebracht. Dies verband sich mit einer Intensivierung administrativer Einflussnahme und gesetzlicher Programmierung, aber auch mit einer verstärkten Einbindung privater Akteure, denen in unterschiedlichem Maße Spielraum zur eigenverantwortlichen Gestaltung gelassen wurde. Die Spielarten derart entstandener regulierter Selbstregulierung waren mannigfaltig: neben der Integration in korporatistische Konzepte findet man eher liberale Varianten, die die Eigeninitiative größtenteils bei privaten Organisationen beließen, kooperative Verhandlungslösungen oder versteckte Formen, in denen die staatliche Entscheidungsprärogative nach außen hin gewahrt blieb, intermediäre Kräfte aber diskret einbezogen wurden. Diese vielgestaltigen Ausprägungen werden in diesem Band am Beispiel Deutschlands, Österreichs, der Niederlande, Frankreichs, Schwedens, Italiens und der USA verdeutlicht.