https://dspace.uniba.sk/xmlui/handle/123456789/26 Science Park Tue, 14 Apr 2026 23:49:44 GMT 2026-04-14T23:49:44Z https://dspace.uniba.sk/xmlui/handle/123456789/27 Non-invasive prenatal testing as a valuable source of population specific allelic frequencies - dataset Budiš, Jaroslav; Gazdarica, Juraj; Radvánszky, Ján; Haršanyová, Mária; Gazdaricová, Iveta; Striešková, Lucia; Frno, Richard; Ďuriš, František; Minárik, Gabriel; Sekelská, Martina; Nagy, Balint; Szemes, Tomáš 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. 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). Fri, 01 Jan 2021 00:00:00 GMT https://dspace.uniba.sk/xmlui/handle/123456789/27 2021-01-01T00:00:00Z