Priit Paluoja

Breaking the 7 Mb barrier: Clinical cohort validation of genome-wide NIPT with fetal fraction enrichment and BinDel for detection of 1 Mb microdeletions and -duplications

This study validates FF-enriched GW-NIPT for detecting 1 Mb CNVs with high performance across BMI groups and low failure rates.

Non-invasive Prenatal MT-RNR1 Pharmacogenetic Testing for the Prevention of Aminoglycoside-Induced Profound Hearing Loss

The paper develops a prenatal pharmacogenetic test using non-invasive prenatal testing data to identify variants in MT-RNR1 that predict risk of aminoglycoside-induced hearing loss with high accuracy.

Honey bulk DNA metagenomic analysis to identify honey biological composition and monitor honey bee pathogens

This study uses bulk DNA metagenomic analysis of honey samples to identify biological composition and detect honey bee pathogens and parasites.

Targeted gene expression profiling for accurate endometrial receptivity testing

The paper develops a targeted gene expression assay to assess endometrial receptivity, finding higher rates of shifted window of implantation in recurrent implantation failure patients.

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples

This study evaluates five NIPT aneuploidy detection tools using clinically validated samples, finding that lower sequencing coverage increases false-negative and false-positive rates.

DUX4 regulates oocyte to embryo transition in human

This study shows that DUX4 regulates the oocyte-to-embryo transition in humans by activating enhancers and promoting genome reprogramming.

Computational framework for targeted high-coverage sequencing based NIPT

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: targeted DNA and RNA sequencing for precise biomarker molecule counting

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.

Creating basis for introducing NIPT in the Estonian public health setting

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.