Molecular Genetics Glossary PDF

Glossary 06 December 2023 16:47 Genome-wide Association Research: A scientific investigation method identifying associations between genetic variants and traits across the entire genome, facilitating the understanding of common disorders as extremes of quantitative traits rather than distinct entiti...

Glossary 06 December 2023 16:47 Genome-wide Association Research: A scientific investigation method identifying associations between genetic variants and traits across the entire genome, facilitating the understanding of common disorders as extremes of quantitative traits rather than distinct entities. Mendelians: Scientists exploring Mendelian patterns of inheritance in qualitative traits, contrasting with biometricians in their approach to understanding genetic inheritance. Biometricians: Advocates of the idea that Mendel's laws of inheritance did not apply to quantitative traits, thus showing no straightforward inheritance patterns. Quantitative Genetics: A branch of genetics investigating natural phenotypic variation by estimating the cumulative genetic influence on traits. Molecular Genetics: The study focusing on gene function rather than specific phenotypes, examining naturally occurring monogenic effects or induced ones. Genome-wide Association (GWA) Studies: Research identifying associations of small effect size between genetic variants and traits, particularly disorders, revealing the polygenic nature of these traits. Polygenic Liability: Genetic susceptibility to disorders influenced by multiple DNA variants, viewed as a continuous distribution of risk. Quantitative Traits: Characteristics influenced by multiple genes, represented as quantitative measurements rather than distinct disorders. Statistical Understanding: Familiarity with statistical methodologies such as linear regression, variance, and covariance, crucial for assessing and analyzing quantitative traits. Polygenic Risk Scores: Sets of multiple DNA variants associated with a disorder used to predict population-wide genetic risk and investigate quantitative trait variations. Genome-wide Association (GWA) Studies: Research identifying associations between genetic variants and traits, aiding in understanding complex disorders through quantitative trait analysis. Population Cohort Studies: Investigations within larger populations exploring multiple quantitative phenotypes and their changes over time, useful for understanding disorder development. Phenomics: The comprehensive study of phenotypic characteristics at a population level, contributing to a holistic understanding of disease origins. Multivariate Traits: Interconnected quantitative traits revealing associations and overlaps between seemingly disparate DNA variants and disorders. Dimensional Approach: A shift from qualitative diagnoses to quantitative dimensions in assessing disorders, allowing a more nuanced understanding of normal trait variation. Prevention-oriented Public Health Model: A model focused on preventive measures based on quantifying the population's risk for disorders rather than solely treating diagnosed cases. Extreme Values of Quantitative Traits: Identifiable markers at the extremes of a normal distribution curve, relevant in both medical and social contexts. Diagnostic Constructs: Historical constructs based on symptoms rather than the etiology of disorders, often limiting scientific advancement in understanding disorders. Aetiology-based Diagnosis: Diagnostic approaches focusing on the root causes of disorders rather than symptom-based classification. Multivariate Continuous Dimensions: Comprehensive dimensions allowing the exploration of complex traits beyond clinical definitions, essential for effective prevention strategies. PSYC0036 Genes and Behaviour Page 1