Combinations of Genetic Variants Occurring Exclusively in Patients

Erling Thyge Mellerup; Gert Lykke Møller

doi:10.1016/j.csbj.2017.03.001

Combinations of Genetic Variants Occurring Exclusively in Patients

Erling Thyge Mellerup, Gert Lykke Møller

Molecular Neuroscience

3 Citationer (Scopus)

79 Downloads (Pure)

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.

Originalsprog	Engelsk
Tidsskrift	Computational and Structural Biotechnology Journal
Vol/bind	15
Sider (fra-til)	286-289
ISSN	2001-0370
DOI	https://doi.org/10.1016/j.csbj.2017.03.001
Status	Udgivet - 2017

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10.1016/j.csbj.2017.03.001Licens: CC BY

Combinations of Genetic Variants Occurring Exclusively in PatientsForlagets udgivne version, 264 KBLicens: CC BY

Citationsformater

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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.",

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AB - 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.

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DO - 10.1016/j.csbj.2017.03.001

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JO - Computational and Structural Biotechnology Journal

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Combinations of Genetic Variants Occurring Exclusively in Patients

Abstract

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