Kaarel Krjutškov

This study shows that exon skipping therapy is more effective when started early in adult mdx mice than in aged mice, leading to better dystrophin restoration and transcriptomic changes.

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

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.

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

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.

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

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.

The paper shows that most extracellular miRNAs are secreted non-vesicularly, with only <2% associated with EVs, even though EVs can stabilize miRNAs in serum.

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

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

The paper identifies a conserved DNA motif bound by PLAG1 that regulates zygotic genome activation in mice and humans, affecting early embryo development.

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.

The paper investigates how cellular composition affects endometrial gene expression profiles and shows that adjusting for cell proportions changes differential expression results.