Martina Sekelska
Research Subjects
Research Interests
Martina Sekelska has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Frantisek Duris
Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia
1 shared publication - Gabriel Minarik
Institute of Molecular Biomedicine, Faculty of Medicine, Comenius University, Bratislava, Slovakia
1 shared publication - Iveta Gazdaricova
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University
1 shared publication - Jan Radvanszky
Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia
1 shared publication - Jaroslav Budis
Geneton Ltd., 841 04 Bratislava, Slovakia
1 shared publication - Juraj Gazdarica
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University
1 shared publication
Latest Publications
- Open Access
Non-invasive prenatal testing as a valuable source of population specific allelic frequencies
Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1,548 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.
Open AccessNon-invasive prenatal testing as a valuable source of population specific allelic frequencies
Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1,548 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.