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Non-invasive prenatal testing as a valuable source of population specific allelic frequencies - dataset

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dc.contributor.author Budiš, Jaroslav
dc.contributor.author Gazdarica, Juraj
dc.contributor.author Radvánszky, Ján
dc.contributor.author Haršanyová, Mária
dc.contributor.author Gazdaricová, Iveta
dc.contributor.author Striešková, Lucia
dc.contributor.author Frno, Richard
dc.contributor.author Ďuriš, František
dc.contributor.author Minárik, Gabriel
dc.contributor.author Sekelská, Martina
dc.contributor.author Nagy, Balint
dc.contributor.author Szemes, Tomáš
dc.date.accessioned 2021-07-20T12:08:57Z
dc.date.available 2021-07-20T12:08:57Z
dc.date.issued 2021
dc.identifier.uri https://dspace.uniba.sk/xmlui/handle/123456789/27
dc.description Sequenced reads from 1501 individuals (low coverage ~0.2x) to estimate common genomic variation in Slovak population. SNP, insertion and deletion variants are available in form of VCF file. To open the file use i.e. IGV (Integrative Genomics Viewer). en_US
dc.description.abstract Low coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted relatively low-cost DNA tests. Since aggregation of reads from a large amount of samples allows to overcome problems of extremely low coverage of individual samples, the possible reuse of the data generated during NIPT testing for genome scale population specific frequency determination of single nucleotide variants is described. en_US
dc.description.sponsorship This work was supported by the project titled “REVOGENE – Research Centre for Molecular Genetics” (ITMS 26240220067) supported by the Operational Program Research and Development funded by the European Regional Development Fund.
dc.subject genome sequencing en_US
dc.subject DNA tests en_US
dc.subject NIPT testing en_US
dc.subject population specific allelic frequencies
dc.title Non-invasive prenatal testing as a valuable source of population specific allelic frequencies - dataset en_US
dc.type Dataset en_US


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