Science Park https://dspace.uniba.sk/xmlui/handle/123456789/26 2026-04-14T23:49:31Z 2026-04-14T23:49:31Z Budiš, Jaroslav Gazdarica, Juraj Radvánszky, Ján Haršanyová, Mária Gazdaricová, Iveta Striešková, Lucia Frno, Richard Ďuriš, František Minárik, Gabriel Sekelská, Martina Nagy, Balint Szemes, Tomáš https://dspace.uniba.sk/xmlui/handle/123456789/27 2021-07-20T14:20:16Z 2021-01-01T00:00:00Z

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).

2021-01-01T00:00:00Z