Találati lista | Tudóstér

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
Borító:
Saját polcon:

001-es BibID:	BIBFORM090548
035-os BibID:	(Scopus)85099826325 (WOS)000610904200001 (cikkazonosító)819
Első szerző:	Pös, Ondrej (biológus)
Cím:	Copy Number Variation : methods and Clinical Applications / Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes
Dátum:	2021
ISSN:	2076-3417
Megjegyzések:	Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases. In recent decades, researchers developed a wide variety of cytogenetic and molecular methods with different detection capabilities to detect clinically relevant CNVs. In this review, we summarize methodological progress from conventional approaches to current state of the art techniques capable of detecting CNVs from a few bases up to several megabases. Although the recent rapid progress of sequencing methods has enabled precise detection of CNVs, determining their functional effect on cellular and whole-body physiology remains a challenge. Here, we provide a comprehensive list of databases and bioinformatics tools that may serve as useful assets for researchers, laboratory diagnosticians, and clinical geneticists facing the challenge of CNV detection and interpretation.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk copy number variants CNV detection CNV interpretation bioinformatics tools molecular methods
Megjelenés:	Applied Sciences-Basel. - 11 : 2 (2021), p. 1-16. -
További szerzők:	Radvanszky, Jan Styk, Jakub Pös, Zuzana Buglyó Gergely (1980-) (genetikus) Kajsik, Michal Budis, Jaroslav Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM107654
035-os BibID:	(Scopus)85146857319 (WoS)000920608400001
Első szerző:	Styk, Jakub
Cím:	Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine : status quo and outlook / Styk Jakub, Pös Zuzana, Pös Ondrej, Radvanszky Jan, Turnova Evelina Hrckova, Buglyó Gergely, Klimova Daniela, Budis Jaroslav, Repiska Vanda, Nagy Bálint, Szemes Tomas
Dátum:	2023
ISSN:	1878-5077 1878-5085
Megjegyzések:	A form of genomic alteration called microsatellite instability (MSI) occurs in a class of tandem repeats (TRs) called microsatellites (MSs) or short tandem repeats (STRs) due to the failure of a post-replicative DNA mismatch repair (MMR) system. Traditionally, the strategies for determining MSI events have been low-throughput procedures that typically require assessment of tumours as well as healthy samples. On the other hand, recent large-scale pan-tumour studies have consistently highlighted the potential of massively parallel sequencing (MPS) on the MSI scale. As a result of recent innovations, minimally invasive methods show a high potential to be integrated into the clinical routine and delivery of adapted medical care to all patients. Along with advances in sequencing technologies and their ever-increasing cost-effectiveness, they may bring about a new era of Predictive, Preventive and Personalised Medicine (3PM). In this paper, we offered a comprehensive analysis of high-throughput strategies and computational tools for the calling and assessment of MSI events, including whole-genome, whole-exome and targeted sequencing approaches. We also discussed in detail the detection of MSI status by current MPS blood-based methods and we hypothesised how they may contribute to the shift from conventional medicine to predictive diagnosis, targeted prevention and personalised medical services. Increasing the efficacy of patient stratification based on MSI status is crucial for tailored decision-making. Contextually, this paper highlights drawbacks both at the technical level and those embedded deeper in cellular/molecular processes and future applications in routine clinical testing.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Microsatellite instability Cancer Screening Massively parallel sequencing Liquid biopsy Patient stratification Predictive Preventive Personalised Medicine (PPPM / 3PM)
Megjelenés:	EPMA Journal. - 14 : 1 (2023), p. 143-165. -
További szerzők:	Pös, Zuzana Pös, Ondrej (1990-) (biológus) Radvanszky, Jan Turnova, Evelina Hrckova Buglyó Gergely (1980-) (genetikus) Klimova, Daniela Budis, Jaroslav Repiska Vanda Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: