Juraj Gazdarica

Optimizing mixed sample analysis as a step to comprehensive desease screening: a pilot study

This study optimizes mixed sample analysis for Lynch Syndrome detection, finding that pooling whole blood samples before DNA isolation is cost-effective and detects pathogenic variants at 5% frequency.

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

This study uses NIPT data to determine population-specific allelic frequencies of small DNA variants at low cost, showing high reliability through in silico and wet lab validation.

Innovative method for reducing uninformative calls in non-invasive prenatal testing

The paper introduces a method to reduce uninformative calls in NIPT by analyzing the length profile of circulating cell-free DNA, improving resolution of ambiguous results when combined with z-scores.