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Title SnakeLines: integrated set of computational pipelines for sequencing reads Author Budiš J. Co-authors Krampl W. Bohmer M. Szemes Tomáš Kucharík Marcel Lichvár M. Hekel R. Goga Adrián Sitarčík Jozef Smoľak D. Baláž A. Ďuriš F. Gazdarica Juraj Šoltys Katarína Turňa Ján Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Source document Journal of Integrative Bioinformatics. Vol. 20, no. 3 (2023), art. no. 20220059 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2024 DOI 10.1515/jib-2022-0059 URL URL link File name Access Size Downloaded Type License SnakeLinesintegrated set of computational pipelines for sequencing reads.pdf available 1.9 MB 1 Publisher's version 
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Title Evaluation and limitations of diferent approaches among COVID-19 fatal cases using whole-exome sequencing data Author Forgáčová Natália SAVBIOMED - Biomedicínske centrum SAV Co-authors Holesova Zuzana Hekel R. Sedláčková Tatiana Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Krivošíková Lucia Janega Pavol 1978- Kuracinová Kristína Babál Pavel Radvák Peter 1983 Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Gazdarica Juraj Budiš J. Szemes Tomáš Source document BMC Genomics. Vol. 24, iss. 1 (2023), art. no. 12 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 DOI 10.1186/s12864-022-09084-5 URL URL link File name Access Size Downloaded Type License Evaluation and Limitations of Different Approaches Among COVID-19 Fatal.pdf available 1.2 MB 2 Publisher's version article
Title APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease Author Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Co-authors Khedr Milad Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Penesová Adela SAVBIOMED - Biomedicínske centrum SAV Hekel R. Szemes Tomáš Ranganath Lakshminarayan R. Zaťková Andrea 1971- SAVBIOMED - Biomedicínske centrum SAV Source document Bratislava Medical Journal. Roč. 124, č. 5 (2023), s. 351-355 Category ADNA - Scientific papers in domestic impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 DOI 10.4149/BLL_2023_053 URL URL link File name Access Size Downloaded Type License APOC3 and ABCA1 variants in unusual combinedhypolipidaemia showing premature peripheral vascular disease.pdf available 38.8 KB 3 Publisher's version article
Title Automated prediction of the clinical impact of structural copy number variations Author Gažiová M. Co-authors Sládeček Tomáš Pos Ondrej Števko M. Krampl W. Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Hekel R. Hlavačka Mário Kucharík Marcel Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Budiš J. Szemes Tomáš Action APVV-18-0319. Vývoj a testovanie molekulárnych a informatických metód na efektívnu charakterizáciu a interpretáciu klinicky relevantných mikrosatelitových repetitívnych motívov z genomických dát : 2019-2023 : Geneton : BMC SAV Source document Scientific Reports. Vol.12, no. 1 (2022), art. no. 555 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2022 DOI 10.1038/s41598-021-04505-z URL URL link File name Access Size Downloaded Type License Automated prediction of the clinical impact of structural.pdf available 6.5 MB 1 Publisher's version article
Title Automated prediction of the clinical impact of copy number variants: The power of combining expert and machine learning approach : P17.018.A Author Budiš J. Co-authors Sládeček Tomáš Kucharík Marcel Gáiová Michaela Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Pos Ondrej Hlavačka Mário Tevko Martin Krampl W. Hekel R. Radvánszky Ján SAVBIOMED - Biomedicínske centrum SAV Szemes Tomáš Source document European Journal of Human Genetics. Vol. 30, no. 1, suppl. 1 (2022), p. 484 Category AFG - Abstracts of papers from foreign conferences Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2022 article
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Title Privacy-preserving storage of sequenced genomic data Author Hekel R. Co-authors Budiš J. Kucharík Marcel Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Szemes Tomáš Source document BMC Genomics. Vol. 22, no. 1 (2021), art. no. 712 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 DOI 10.1186/s12864-021-07996-2 URL URL link File name Access Size Downloaded Type License Privacy-preserving storage of sequenced genomic data.pdf available 1.6 MB 1 Publisher's version article
Title SnakeLines: integrated set of computational pipelines for paired-end sequencing reads Author Krampl W. Co-authors Budiš J. Kucharík Marcel Hekel R. Lichvár M. Smoľak D. Bohmer M. Baláž A. Ďuriš F. Gazdarica Juraj Šoltys Katarína Turňa Ján Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Szemes Tomáš Action European society of human genetics conference ( 52nd : June 15-18, 2019 : Gothenburg, Sweden ) APVV-16-0264. Zvýšenie organoleptickej kvality vína aplikáciou nesacharomycétových koštartérov optimalizovanou na základe analýzy mikroflóry použitím NGS a analýzy arómy : 2017-2021 APVV-15-0232. Využitie sekvenovania novej generácie pre analýzu virómu medicínsky a hospodársky významných organizov : 2016-2019 : BMC Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1695-1695 Category AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2019 article
Title Improved fetal fraction estimation by combining estimators based on fragment lengths and fragment counts in non-invasive prenatal testing Author Hekel R. Co-authors Gazdarica Juraj Budiš J. Kucharík Marcel Ďuriš F. Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Turňa Ján Szemes Tomáš Action European society of human genetics conference ( 52nd : June 15-18, 2019 : Gothenburg, Sweden ) Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1638-1638 Category AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2019 article
Title Combination of fetal fraction estimators based on fragment lengths and fragment counts in non-invasive prenatal testing Author Gazdarica Juraj Co-authors Hekel R. Budiš J. Kucharík Marcel Ďuriš F. Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Turňa Ján Szemes Tomáš Action ITMS 26240220071 KC UK. Vybudovanie Kompetenčného centra pre výskum a vývoj v oblasti molekulárnej medicíny : 10/2011 - 11/2014 Source document International Journal of Molecular Sciences. Vol. 20, no. 16 (2019), art. no. 3959 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2019 DOI 10.3390/ijms20163959 URL URL link File name Access Size Downloaded Type License Combination of fetal fraction estimators based on fragment lengths and fragment counts in non-invasive prenatal testing.pdf available 2 MB 1 Publisher's version article