Studying how genetic variants affect mechanism in biological systems

• Verfasst von: Raimondi, Francesco [VerfasserIn]
• Verfasst von: Russell, Robert B. [VerfasserIn]
• Titel: Studying how genetic variants affect mechanism in biological systems
• Verf.angabe: Francesco Raimondi, Robert B. Russell
• E-Jahr: 2018
• Jahr: Oct 12, 2018
• Umfang: 8 S.
• Fussnoten: Gesehen am 02.04.2019
• Titel Quelle: Enthalten in: Essays in biochemistry
• Ort Quelle: London : Portland Press, 1998
• Jahr Quelle: 2018
• Band/Heft Quelle: 62(2018), 4, Seite 575-582
• ISSN Quelle: 1744-1358
• DOI: doi:10.1042/EBC20180021
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1662727917

Abstract

Genetic variants are currently a major component of system-wide investigations into biological function or disease. Approaches to select variants (often out of thousands of candidates) that are responsible for a particular phenomenon have many clinical applications and can help illuminate differences between individuals. Selecting meaningful variants is greatly aided by integration with information about molecular mechanism, whether known from protein structures or interactions or biological pathways. In this review we discuss the nature of genetic variants, and recent studies highlighting what is currently known about the relationship between genetic variation, biomolecular function, and disease. - Genetic variants are currently a major component of system-wide investigations into biological function or disease. Approaches to select variants (often out of thousands of candidates) that are responsible for a particular phenomenon have many clinical applications and can help illuminate differences between individuals. Selecting meaningful variants is greatly aided by integration with information about molecular mechanism, whether known from protein structures or interactions or biological pathways. In this review we discuss the nature of genetic variants, and recent studies highlighting what is currently known about the relationship between genetic variation, biomolecular function, and disease.