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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 
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Title Exome-based bottom-up approach of molecular diagnostics in a clinically ambiguous family with a polystigmatized patient revealed ultra-rare NEDD4L associated periventricular nodular heterotopia Author Pecimonova Martina Co-authors Smoľak D. Budiš J. Lichvár M. 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 ) Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1453-1454 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 Molecular diagnostic challenges of repeat expansion disorders in the era of genome scale DNA sequencing: the myotonic dystrophy example Author Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Co-authors Budiš J. Kucharík Marcel Kádaši Ľudevít 1952- SAVBIOMED - Biomedicínske centrum SAV 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. 1646-1647 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 High error rate in a specific region of the CFTR gene may lead to false variant findings when using massively parallel sequencing in molecular diagnostics of cystic fibrosis Author Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Co-authors Budiš J. Kucharík Marcel Szemes Tomáš Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV 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), pp. 1621-1621 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 Isolated methylmalonic acidaemia in Slovakia Author Škopková Martina SAVEXEND - Ústav experimentálnej endokrinológie SAV Co-authors Brennerová Katarína Šaligová J. Potocnaková L. Halová K. Bzduch Vladimir Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVEXEND - Ústav experimentálnej endokrinológie SAV Action European society of human genetics conference ( 52nd : June 15-18, 2019 : Gothenburg, Sweden ) APVV-17-0296. Štúdium genetických príčin zriedkavých ochorení s dôrazom na metabolické poruchy asociované s hypoglykémiami a poruchy mitochondrií : BMC-ÚEE VEGA 2/0083/17. Celoexómové sekvenovanie u pacientov s podozrením na primárne mitochondriopatie : 2017-2020 APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1344-1344 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 Innovative method for reducing uninformative calls in non-invasive prenatal testing Author Budiš J. Co-authors Gazdarica Juraj Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Szucs G. Kucharík Marcel Striešková Lucia Gazdaricová Iveta Haršanyová Mária Ďuriš F. Minárik G. Sekelská Martina Nagy B. 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. 1654-1655 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