A machine learning-based, continuous in silico coronary artery disease (CAD) score built using electronic health record data is applied to rare variant association analysis of CAD, implicating novel candidate genes and biological mechanisms.

Upon inflammation and targeted gene mutation, some fully differentiated secretory and postmitotic intestinal epithelial lineages dedifferentiate to acquire stem-like features and promote tumor formation.

Single-cell transcriptome profiling of human aneuploid blastocysts highlights global transcriptomic alteration and identifies novel dosage-sensitive genes in aneuploidy. Aneuploid embryos undergo unstable epiblast maturation caused by defects in the TGF-β and FGF pathways that impact trophectoderm progression.

The study identifies transcription factor OsGATA8 as a negative regulator of nitrogen uptake and tiller formation in rice and OsGATA8-H as an elite haplotype with reduced expression and enhanced nitrogen use efficiency.

Clones expressing variants of the X-chromosome-linked STAG2 gene only form lymphocytes in the absence of Stag2^WT clones. Interactions between epigenetic clones can thus modulate the impact of X-chromosome-linked genetic diversity in a cell-type-specific manner.

Genomic analysis identifies an SVA retrotransposon insertion in an intron of ASIP as a likely causal variant influencing human pigmentation. This insertion appears to mitigate the effects of an older, nonpolymorphic SVA insertion in the same intron.

Allele-specific DNA methylation data in whole blood from 7,179 individuals sequenced by Nanopore, and gene expression profiles from 896 samples, show that DNA sequence variability accounts for most of the correlation between CpG methylation and gene expression.

A spatial transcriptomic analysis of healthy kidneys and those from individuals with chronic kidney disease characterizes the fibrotic microenvironment and highlights features that could be used to predict prognosis.

Single-cell analyses in RAD21-depleted mouse embryonic stem cells show that cohesin limits the coexpression of genes located in different accessible chromatin domains on the same chromosome by preventing co-bursting and blocking spatial mixing of different transcriptional hubs.

Inactivation of somatic SMC complexes in Caenorhabditis elegans shows that condensin I is the major long-range genome loop extruder, while cohesin forms small loops. Inactivation of cohesin, condensin II and condensin I/I^DC causes minor transcriptional changes in autosomes.

Genotype prediction from RNA sequencing (RNA-seq) data has become widespread, but there is a lack of clarity in current policy and inconsistency in data handling. To address this we call for a framework consisting of registered access for RNA-seq data, controlled access for genotypes, a code of conduct and enhanced downstream protections.

From a young age, my fascination with life sciences led me to follow in the footsteps of my grandmother, a pediatrician, whose name I proudly bear. After graduating from Tbilisi State Medical University in 2004, I pursued my PhD in neuroscience under the guidance of my lifelong mentor Elene Abzianidze. However, it was not until my clinical training in neurology in 2015, when seeing children with rare neurological diseases, that I realized the importance of precise diagnosis.