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SnakeLines: integrated set of computational pipelines for sequencing reads.
J Integr Bioinform. 2023 Aug 21;20(3):20220059. doi: 10.1515/jib-2022-0059. eCollection 2023 Sep 1.
J Integr Bioinform. 2023.
PMID: 37602733
Free PMC article.
APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.
Pos Z, Khedr M, Radvanszky J, Penesova A, Hekel R, Szemes T, Ranganath LR, Zatkova A.
Pos Z, et al. Among authors: hekel r.
Bratisl Lek Listy. 2023;124(5):351-355. doi: 10.4149/BLL_2023_053.
Bratisl Lek Listy. 2023.
PMID: 36876364
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Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.
Forgacova N, Holesova Z, Hekel R, Sedlackova T, Pos Z, Krivosikova L, Janega P, Kuracinova KM, Babal P, Radvak P, Radvanszky J, Gazdarica J, Budis J, Szemes T.
Forgacova N, et al. Among authors: hekel r.
BMC Genomics. 2023 Jan 10;24(1):12. doi: 10.1186/s12864-022-09084-5.
BMC Genomics. 2023.
PMID: 36627554
Free PMC article.
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Mitochondrial DNA copy number changes, heteroplasmy, and mutations in plasma-derived exosomes and brain tissue of glioblastoma patients.
Soltész B, Pös O, Wlachovska Z, Budis J, Hekel R, Strieskova L, Liptak JB, Krampl W, Styk J, Németh N, Keserű JS, Jenei A, Buglyó G, Klekner Á, Nagy B, Szemes T.
Soltész B, et al. Among authors: hekel r.
Mol Cell Probes. 2022 Dec;66:101875. doi: 10.1016/j.mcp.2022.101875. Epub 2022 Nov 12.
Mol Cell Probes. 2022.
PMID: 36379303
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Automated prediction of the clinical impact of structural copy number variations.
Gažiová M, Sládeček T, Pös O, Števko M, Krampl W, Pös Z, Hekel R, Hlavačka M, Kucharík M, Radvánszky J, Budiš J, Szemes T.
Gažiová M, et al. Among authors: hekel r.
Sci Rep. 2022 Jan 11;12(1):555. doi: 10.1038/s41598-021-04505-z.
Sci Rep. 2022.
PMID: 35017614
Free PMC article.
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Privacy-preserving storage of sequenced genomic data.
Hekel R, Budis J, Kucharik M, Radvanszky J, Pös Z, Szemes T.
Hekel R, et al.
BMC Genomics. 2021 Oct 2;22(1):712. doi: 10.1186/s12864-021-07996-2.
BMC Genomics. 2021.
PMID: 34600465
Free PMC article.
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Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing.
Gazdarica J, Hekel R, Budis J, Kucharik M, Duris F, Radvanszky J, Turna J, Szemes T.
Gazdarica J, et al. Among authors: hekel r.
Int J Mol Sci. 2019 Aug 14;20(16):3959. doi: 10.3390/ijms20163959.
Int J Mol Sci. 2019.
PMID: 31416246
Free PMC article.
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On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing.
Kubiritova Z, Gyuraszova M, Nagyova E, Hyblova M, Harsanyova M, Budis J, Hekel R, Gazdarica J, Duris F, Kadasi L, Szemes T, Radvanszky J.
Kubiritova Z, et al. Among authors: hekel r.
J Biotechnol. 2019 Jun 10;298:64-75. doi: 10.1016/j.jbiotec.2019.04.013. Epub 2019 Apr 15.
J Biotechnol. 2019.
PMID: 30998956
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