DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Year: 2021
Type: review
Abstract: 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.
Source: Biomedical Journal
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid:
Awards: G170866922, G2585677828, G3112476385, G3345895242, G3349476386, G3477743816, Vývoj a testovanie molekulárnych a informatických metód na efektívnu charakterizáciu a interpretáciu klinicky relevantných mikrosatelitových repetitívnych motívov z genomických dát, G6640557855, G7044318319, G7061395389, G8013789063, G8367957132
OpenAlex ID: W3131612759