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...

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Autores principales:	Ondrej Pös, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Diana Rusnakova, Bálint Nagy, Tomas Szemes
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Copy number variants Structural variation Human genome CNV formation Evolution Genetic diseases Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/d9559a56f18e46cdb2b60fe062d1ff3c
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spelling	oai:doaj.org-article:d9559a56f18e46cdb2b60fe062d1ff3c2021-11-28T04:33:10ZDNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects2319-417010.1016/j.bj.2021.02.003https://doaj.org/article/d9559a56f18e46cdb2b60fe062d1ff3c2021-10-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2319417021000093https://doaj.org/toc/2319-4170Copy 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.Ondrej PösJan RadvanszkyGergely BuglyóZuzana PösDiana RusnakovaBálint NagyTomas SzemesElsevierarticleCopy number variantsStructural variationHuman genomeCNV formationEvolutionGenetic diseasesMedicine (General)R5-920Biology (General)QH301-705.5ENBiomedical Journal, Vol 44, Iss 5, Pp 548-559 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Copy number variants Structural variation Human genome CNV formation Evolution Genetic diseases Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Copy number variants Structural variation Human genome CNV formation Evolution Genetic diseases Medicine (General) R5-920 Biology (General) QH301-705.5 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
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.
format	article
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
title	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_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_sort	dna copy number variation: main characteristics, evolutionary significance, and pathological aspects
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/d9559a56f18e46cdb2b60fe062d1ff3c
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DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

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