Combinations of Genetic Variants Occurring Exclusively in Patients

Publication date: 2017Source: Computational and Structural Biotechnology Journal, Volume 15Author(s): Erling Mellerup, Gert Lykke MøllerAbstractIn studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons.
Source: Computational and Structural Biotechnology Journal - Category: Biotechnology Source Type: research