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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Research Network of Computational and Structural Biotechnology
2017
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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. |
format | Online Article Text |
id | pubmed-5367802 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Research Network of Computational and Structural Biotechnology |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT melleruperling combinationsofgeneticvariantsoccurringexclusivelyinpatients AT møllergertlykke combinationsofgeneticvariantsoccurringexclusivelyinpatients |