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.
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).
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.
