Andres Salumets

This study finds no significant transcriptomic differences between PMOS and control iPSC lines, highlighting donor variation as the main source of expression differences.

DIPLER identifies structurally complex loci using k-mer analysis and de novo assembly from low-coverage sequencing data.

This paper uses AlphaGenome to prioritize endometriosis-associated variants with strong uterus-specific regulatory effects, identifying new candidate genes and refining GWAS loci.

The paper uses multimodal single-cell profiling to show how puberty and chemotherapy affect pediatric ovarian tissue, identifying vulnerabilities and a potential biomarker.

This study investigates how microbial compounds D-lactate and LPS affect endometrial epithelial function using organoids, showing distinct gene expression changes related to growth and inflammation.

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 compares 16S rRNA gene sequencing and meta-transcriptomic analyses of endometrial microbiota, finding weak correlation in low-biomass environments and highlighting the value of RNA-based functional insights.

This paper develops explainable machine learning models to predict relapse timing in endometrial cancer using preoperative data, finding high performance with F1 scores up to 0.895.

This study examines the early transcriptomic changes in mouse ovaries after cyclophosphamide exposure, identifying p53-driven gene expression patterns linked to apoptosis and DNA damage.

The paper investigates endometrial polyps using bulk and single-cell RNA sequencing, identifying aberrant stromal-to-epithelial transitions and altered differentiation trajectories.

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

This study shows that hypoxia (6% O2) improves blastocyst formation in bovine embryos compared to normoxia (20% O2) and ultrahypoxia (2% O2), with normoxia altering energy metabolism and reducing blastocyst rates.

This study examines how human ovarian cortical and medullary cells respond to acute X-ray exposure, finding transcriptomic shifts and impaired cell-cell adhesion.

OncoProExp is a web application for cancer proteomics and phosphoproteomics analysis, offering tools for data exploration, biomarker discovery, and risk stratification using machine learning.

This study develops and characterizes 3D models of human ovarian primary cells using Biosilk scaffolds, showing they maintain key cell types and form a hypoxic core.

This study shows that phthalate monoesters alter membrane fluidity and disrupt cell-cell contacts in endometrial stromal cells.

The paper uses single-cell RNA-sequencing to identify distinct metabolic signatures in endometriotic lesions compared to eutopic endometrium, highlighting altered pathways and steroidogenesis-related genes in specific cell types.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

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.

The paper investigates the effects of alcohol exposure on placental DNA methylation and identifies DPPA4 as a candidate gene for alcohol-induced developmental disorders.

The paper finds that aneuploidy in human embryos is linked to higher mitochondrial DNA content and more ultra-rare mtDNA variants, independent of maternal age.

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

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

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 and validates target genes of hsa-miR-548ba and hsa-miR-7973 in granulosa cells, showing their roles in follicle development and extracellular matrix remodeling.

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

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.