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001-es BibID:BIBFORM078672
035-os BibID:(WoS)000468162100011 (Scopus)85064459936
Első szerző:Budis, Jaroslav
Cím:Non-invasive prenatal testing as a valuable source of population specific allelic frequencies / Jaroslav Budis, Juraj Gazdarica, Jan Radvanszky, Maria Harsanyova, Iveta Gazdaricova, Lucia Strieskova, Richard Frno, Frantisek Duris, Gabriel Minarik, Martina Sekelska, Balint Nagy, Tomas Szemes
Dátum:2019
ISSN:0168-1656 1873-4863
Megjegyzések:Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1,548 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
allelic
frequencies
non-invasive
prenatal
Megjelenés:Journal of Biotechnology. - 299 (2019), p. 72-78. -
További szerzők:Gazdarica, Juraj Radvanszky, Jan Harsanyova, Maria Gazdaricova, Iveta Strieskova, Lucia Frno, Richard Duris, Frantisek Minarik, Gabriel Sekelska, Martina Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:DOI
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2.

001-es BibID:BIBFORM075319
035-os BibID:(WoS)000473691900004 (Scopus)85067353429
Első szerző:Budis, Jaroslav
Cím:Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing / Budis Jaroslav, Gazdarica Juraj, Radvanszky Jan, Szucs Gabor, Kucharik Marcel, Strieskova Lucia, Gazdaricova Iveta, Harsanyova Maria, Duris Frantisek, Minarik Gabriel, Sekelska Martina, Nagy Balint, Turna Jan, Szemes Tomas
Dátum:2019
ISSN:1367-4803
Megjegyzések:Motivation: Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable number of samples that cannot be concluded with certainty. Such uninformative results are often subject to repeated blood sampling and re-analysis, usually after two weeks, and this period may cause a stress to the future mothers as well as increase the overall cost of the test. Results: We propose a supplementary method to traditional z-scores to reduce the number of such uninformative calls. The method is based on a novel analysis of the length profile of circulating cell free DNA which compares the change in such profiles when random-based and length-based elimination of some fragments is performed. The proposed method is not as accurate as the standard z-score; however, our results suggest that combination of these two independent methods correctly resolves a substantial portion of healthy samples with an uninformative result. Additionally, we discuss how the proposed method can be used to identify maternal aberrations, thus reducing the risk of false positive and false negative calls. Availability: The open-source code of the proposed methods, together with test data, is freely available for non-commercial users at github web page https://github.com/jbudis/lambda.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
non-invasive
prenatal
testing
improved
Megjelenés:Bioinformatics. - 35 : 8 (2019), p. 1284-1291. -
További szerzők:Gazdarica, Juraj Radvanszky, Jan Szűcs Gábor Kucharik, Marcel Strieskova, Lucia Gazdaricova, Iveta Harsanyova, Maria Duris, Frantisek Minarik, Gabriel Sekelska, Martina Nagy Bálint (1956-) (molekuláris genetikus) Turna, Jan Szemes, Tomas (1980-) (biológus)
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DOI
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3.

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)
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DOI
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4.

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)
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DOI
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5.

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)
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DOI
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