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Title Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions Author Kucharík Marcel Co-authors Gnip Andrej Hyblová Michaela Budiš J. Striešková Lucia Harsanyová Maria Pos Ondrej Pös Zuzana SAVBIOMED - Biomedicínske centrum SAV Radvánszky Ján 1982- SAVUKTRA - Ústav klinického a translačného výskumu BMC SAV Minárik Gabriel Szemes Tomáš Action APVV-15-0232. Využitie sekvenovania novej generácie pre analýzu virómu medicínsky a hospodársky významných organizov : 2016-2019 : BMC Source document PLoS ONE. Vol. 15, no. 8 (2020), art.no. e0238245 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 2020 DOI 10.1371/journal.pone.0238245 URL URL link File name Access Size Downloaded Type License Non-invasive prenatal testing NIPT by low coverage genomic sequencing.pdf available 1.6 MB 1 Publisher's version 
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Title Non-invasive prenatal testing as a valuable source of population specific allelic frequencies Author Budiš J. Co-authors Gazdarica Juraj Radvánszky Ján 1982- SAVBIOMED - Biomedicínske centrum SAV Harsanyová Maria Gazdaricová Iveta Striešková Lucia Frno Richard Ďuriš F. Minárik Gabriel Sekelská Martina Nagy B. Szemes Tomáš Source document Journal of Biotechnology. Vol. 299 (2019), p. 72-78 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 10.1016/j.jbiotec.2019.04.026 article
Title Combining count- and length-based z-scores leads to improved predictions 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 Harsanyová Maria Ďuriš F. Minárik Gabriel Sekelská Martina Nagy B. Turňa Ján Szemes Tomáš Source document Bioinformatics. Vol. 35, no. 8 (2019), p. 1284-1291 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 10.1093/bioinformatics/bty806 article