Gabriel Minárik

The paper combines expert guideline-based and machine learning approaches to improve automated prediction of the clinical effect of copy number variations.

This study evaluates the detection limits of chromosomal microdeletions in non-invasive prenatal testing using whole genome sequencing data and simulated datasets.

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.

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.