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001-es BibID:	BIBFORM091649
Első szerző:	Pös, Ondrej (biológus)
Cím:	DNA copy number variation : main characteristics, evolutionary significance, and pathological aspects / Ondrej Pös, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Diana Rusnakova, Bálint Nagy, Tomas Szemes
Dátum:	2021
ISSN:	2319-4170 2320-2890
Megjegyzések:	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.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk copy number variants structural variation human genome CNV evolution genetic diseases
Megjelenés:	Biomedical Journal. - 44 : 5 (2021), p. 548-559. -
További szerzők:	Radvanszky, Jan Buglyó Gergely (1980-) (genetikus) Pös, Zuzana Rusnakova, Diana Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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