Kadri Rekker

This paper introduces a computational framework for targeted high-coverage sequencing-based NIPT, achieving high accuracy in detecting fetal trisomies and parental origin.

TAC-seq is a targeted sequencing method using UMIs to count biomarker molecules, showing improved accuracy in mRNA, microRNA, and cell-free DNA analysis compared to standard sequencing.

The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.