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Combinations of Genetic Variants Occurring Exclusively in Patients

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 com...

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Detalles Bibliográficos
Autores principales: Mellerup, Erling, Møller, Gert Lykke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367802/
https://www.ncbi.nlm.nih.gov/pubmed/28377798
http://dx.doi.org/10.1016/j.csbj.2017.03.001
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author Mellerup, Erling
Møller, Gert Lykke
author_facet Mellerup, Erling
Møller, Gert Lykke
author_sort Mellerup, Erling
collection PubMed
description 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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spelling pubmed-53678022017-04-04 Combinations of Genetic Variants Occurring Exclusively in Patients Mellerup, Erling Møller, Gert Lykke Comput Struct Biotechnol J Short Survey 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. Research Network of Computational and Structural Biotechnology 2017-03-10 /pmc/articles/PMC5367802/ /pubmed/28377798 http://dx.doi.org/10.1016/j.csbj.2017.03.001 Text en © 2017 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Short Survey
Mellerup, Erling
Møller, Gert Lykke
Combinations of Genetic Variants Occurring Exclusively in Patients
title Combinations of Genetic Variants Occurring Exclusively in Patients
title_full Combinations of Genetic Variants Occurring Exclusively in Patients
title_fullStr Combinations of Genetic Variants Occurring Exclusively in Patients
title_full_unstemmed Combinations of Genetic Variants Occurring Exclusively in Patients
title_short Combinations of Genetic Variants Occurring Exclusively in Patients
title_sort combinations of genetic variants occurring exclusively in patients
topic Short Survey
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367802/
https://www.ncbi.nlm.nih.gov/pubmed/28377798
http://dx.doi.org/10.1016/j.csbj.2017.03.001
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