title: Combinations of Genetic Variants Occurring Exclusively in Patients.
abstract: In 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.
authors.affiliation: Laboratory of Neuropsychiatry, Department of Neuroscience and Pharmacology, Faculty of Health, University of Copenhagen, Denmark.
authors.forename: Erling
authors.initials: E
authors.lastname: Mellerup
authors.affiliation: Genokey ApS, ScionDTU, Technical University of Denmark, Hoersholm, Denmark.
authors.forename: Gert Lykke
authors.initials: GL
authors.lastname: Møller
keywords: Combinations of genetic variants; Genetic variants; Patient-specific combinations; Polygenic disorder