DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host–microbiome interactions. CNVs have foun...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-10-01
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| Series: | Biomedical Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2319417021000093 |
| _version_ | 1817997289043525632 |
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| author | Ondrej Pös Jan Radvanszky Gergely Buglyó Zuzana Pös Diana Rusnakova Bálint Nagy Tomas Szemes |
| author_facet | Ondrej Pös Jan Radvanszky Gergely Buglyó Zuzana Pös Diana Rusnakova Bálint Nagy Tomas Szemes |
| author_sort | Ondrej Pös |
| collection | DOAJ |
| description | Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host–microbiome interactions. CNVs have found application in the molecular diagnosis of many diseases and in non-invasive prenatal care, but their full potential is only emerging. CNVs are expected to have a tremendous impact on screening, diagnosis, prognosis, and monitoring of several disorders, including cancer and cardiovascular disease. Here, we comprehensively review basic definitions of the term CNV, outline mechanisms and factors involved in CNV formation, and discuss their evolutionary and pathological aspects. We suggest a need for better defined distinguishing criteria and boundaries between known types of CNVs. |
| first_indexed | 2024-04-14T02:34:56Z |
| format | Article |
| id | doaj.art-d9559a56f18e46cdb2b60fe062d1ff3c |
| institution | Directory Open Access Journal |
| issn | 2319-4170 |
| language | English |
| last_indexed | 2024-04-14T02:34:56Z |
| publishDate | 2021-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Biomedical Journal |
| spelling | doaj.art-d9559a56f18e46cdb2b60fe062d1ff3c2022-12-22T02:17:30ZengElsevierBiomedical Journal2319-41702021-10-01445548559DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspectsOndrej Pös0Jan Radvanszky1Gergely Buglyó2Zuzana Pös3Diana Rusnakova4Bálint Nagy5Tomas Szemes6Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, SlovakiaGeneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia; Corresponding author. Institute for Clinical and Translational Research, Biomedical Research Centre Slovak Academy of Sciences, Dubravska cesta 9, 845 05, Bratislava, Slovakia.Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, HungaryDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, SlovakiaDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, SlovakiaDepartment of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Corresponding author. Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Egyetem tér 1, Hungary.Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Comenius University Science Park, Bratislava, SlovakiaCopy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host–microbiome interactions. CNVs have found application in the molecular diagnosis of many diseases and in non-invasive prenatal care, but their full potential is only emerging. CNVs are expected to have a tremendous impact on screening, diagnosis, prognosis, and monitoring of several disorders, including cancer and cardiovascular disease. Here, we comprehensively review basic definitions of the term CNV, outline mechanisms and factors involved in CNV formation, and discuss their evolutionary and pathological aspects. We suggest a need for better defined distinguishing criteria and boundaries between known types of CNVs.http://www.sciencedirect.com/science/article/pii/S2319417021000093Copy number variantsStructural variationHuman genomeCNV formationEvolutionGenetic diseases |
| spellingShingle | Ondrej Pös Jan Radvanszky Gergely Buglyó Zuzana Pös Diana Rusnakova Bálint Nagy Tomas Szemes DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects Biomedical Journal Copy number variants Structural variation Human genome CNV formation Evolution Genetic diseases |
| title | DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects |
| title_full | DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects |
| title_fullStr | DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects |
| title_full_unstemmed | DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects |
| title_short | DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects |
| title_sort | dna copy number variation main characteristics evolutionary significance and pathological aspects |
| topic | Copy number variants Structural variation Human genome CNV formation Evolution Genetic diseases |
| url | http://www.sciencedirect.com/science/article/pii/S2319417021000093 |
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