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Marcel Kucharík
Marcel Kucharík
Geneton Ltd.
Overená e-mailová adresa na: geneton.sk - Domovská stránka
Názov
Citované v
Citované v
Rok
Basin Hopping Graph: a computational framework to characterize RNA folding landscapes
M Kucharik, IL Hofacker, PF Stadler, J Qin
Bioinformatics 30 (14), 2009-2017, 2014
532014
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
M Kucharik, A Gnip, M Hyblova, J Budis, L Strieskova, M Harsanyova, ...
PLoS One 15 (8), e0238245, 2020
35*2020
Pseudoknots in RNA folding landscapes
M Kucharík, IL Hofacker, PF Stadler, J Qin
Bioinformatics 32 (2), 187-194, 2016
342016
Identification of structural variation from NGS-based non-invasive prenatal testing
O Pös, J Budis, Z Kubiritova, M Kucharik, F Duris, J Radvanszky, ...
International journal of molecular sciences 20 (18), 4403, 2019
242019
The microbiomes of a XVIII century mummy from the castle of Krásna Hôrka (Slovakia) and its surrounding environment
L Kraková, K Šoltys, A Puškárová, M Bučková, L Jeszeová, M Kucharík, ...
Environmental microbiology 20 (9), 3294-3308, 2018
202018
Dante: genotyping of known complex and expanded short tandem repeats
J Budiš, M Kucharík, F Ďuriš, J Gazdarica, M Zrubcová, A Ficek, T Szemes, ...
Bioinformatics 35 (8), 1310-1317, 2019
162019
Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing
J Budis, J Gazdarica, J Radvanszky, G Szucs, M Kucharik, L Strieskova, ...
Bioinformatics 35 (8), 1284-1291, 2019
152019
Validation of copy number variants detection from pregnant plasma using low-pass whole-genome sequencing in noninvasive prenatal testing-like settings
M Hyblova, M Harsanyova, D Nikulenkov-Grochova, J Kadlecova, ...
Diagnostics 10 (8), 569, 2020
132020
Memory-efficient RNA energy landscape exploration
M Mann, M Kucharík, C Flamm, MT Wolfinger
Bioinformatics 30 (18), 2584-2591, 2014
132014
Combination of fetal fraction estimators based on fragment lengths and fragment counts in non-invasive prenatal testing
J Gazdarica, R Hekel, J Budis, M Kucharik, F Duris, J Radvanszky, ...
International Journal of Molecular Sciences 20 (16), 3959, 2019
112019
Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies
M Sekelska, A Izsakova, K Kubosova, P Tilandyova, E Csekes, Z Kuchova, ...
Diagnostics 9 (4), 138, 2019
92019
Automated prediction of the clinical impact of structural copy number variations
M Gažiová, T Sládeček, O Pös, M Števko, W Krampl, Z Pös, R Hekel, ...
Scientific Reports 12 (1), 555, 2022
72022
Copy number variant detection with low-coverage whole-genome sequencing represents a viable alternative to the conventional array-CGH
M Kucharík, J Budiš, M Hýblová, G Minárik, T Szemes
Diagnostics 11 (4), 708, 2021
72021
Privacy-preserving storage of sequenced genomic data
R Hekel, J Budis, M Kucharik, J Radvanszky, Z Pös, T Szemes
BMC genomics 22, 1-13, 2021
32021
SnakeLines: integrated set of computational pipelines for sequencing reads
J Budiš, W Krampl, M Kucharík, R Hekel, A Goga, J Sitarčík, M Lichvár, ...
Journal of Integrative Bioinformatics 20 (3), 20220059, 2024
22024
Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing
N Forgacova, J Gazdarica, J Budis, M Kucharik, M Sekelska, T Szemes
Molecular and Cellular Probes 66, 101870, 2022
22022
Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations
T Sládeček, M Gažiová, M Kucharík, A Zaťková, Z Pös, O Pös, W Krampl, ...
Scientific Reports 13 (1), 10531, 2023
12023
Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?
M Hyblova, A Gnip, M Kucharik, J Budis, M Sekelska, G Minarik
Diagnostics 12 (12), 3056, 2022
12022
Detection and validation of subchromosomal aberrations detected as additional findings in routine noninvasive prenatal testing for common trisomies
M Sekelská, A Izsáková, K Kubošová, P Tilandyová, E Csekes, Ž Kúchová, ...
časopis laboratórnej medicíny 2019, 69, 2019
12019
Innovative method for reducing uninformative calls in non-invasive prenatal testing
J Budis, J Gazdarica, J Radvanszky, G Szucs, M Kucharik, L Strieskova, ...
arXiv preprint arXiv:1806.08552, 2018
12018
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Články 1–20