Anna Shcherbina

Cellular mechanisms of early brain overgrowth in autistic children: elevated levels of GPX4 and resistance to ferroptosis

The paper investigates cellular mechanisms of brain overgrowth in autistic children with megalencephaly, finding elevated GPX4 and resistance to ferroptosis in neural progenitor cells.

ChromBPNet: bias factorized, base-resolution deep learning models of chromatin accessibility reveal cis-regulatory sequence syntax, transcription factor footprints and regulatory variants

Learning and removing Tn5/DNase-I sequence bias lets a small base-resolution CNN (ChromBPNet) recover TF motifs and footprints from accessibility data and rival Enformer at predicting chromatin QTL effects.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

This study uses single-cell chromatin accessibility analysis to identify developmental trajectories and non-coding mutations associated with congenital heart disease.

Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution

The paper maps gene-regulatory dynamics in the developing human cerebral cortex using single-cell data, identifying key transcription factors and disrupted regulatory elements in ASD.

A genome-wide almanac of co-essential modules assigns function to uncharacterized genes

This paper develops a statistical method to identify gene co-essentiality, creating a genome-wide functional module almanac that predicts functions for 102 uncharacterized genes and validates key findings.

Learning cis-regulatory principles of ADAR-based RNA editing from CRISPR-mediated mutagenesis

The paper develops a CRISPR-based mutagenesis approach combined with machine learning to model cis-regulatory features of ADAR-mediated RNA editing, explaining over 70% of editing level variation.

Overexpression of CD47 is associated with brain overgrowth in 16p11.2 deletion syndrome

The paper investigates the role of CD47 overexpression in 16p11.2 deletion syndrome, showing it contributes to brain overgrowth by inhibiting phagocytosis in neural progenitor and oligodendrocyte progenitor cells.

Single-cell epigenomic identification of inherited risk loci in Alzheimer's and Parkinson's disease

The paper uses single-cell epigenomic data to identify functional SNPs associated with Alzheimer's and Parkinson's disease, revealing novel gene-disease associations and regulatory mechanisms.

Variations and expression features of CYP2D6 contribute to schizophrenia risk

The paper identifies CYP2D6 variants and expression features linked to schizophrenia risk using RNA-seq, GWAS, and epigenetic data.

Genetics of 38 blood and urine biomarkers in the UK Biobank

UK Biobank genetics of 38 blood and urine lab tests yields 1,857 independent loci; combining biomarker and disease polygenic scores improves FinnGen prediction of incident renal failure and alcoholic cirrhosis.

Cell cycle dynamics of human pluripotent stem cells primed for differentiation

The paper analyzes cell cycle dynamics in human pluripotent stem cells primed for differentiation using RNA-sequencing and identifies PI3K signaling's role in early differentiation states.

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank

This study identifies 101 genetic loci associated with hand grip strength in 334,925 UK Biobank participants and links grip strength to brain-related gene expression and health outcomes.

GrigoraSNPs: Optimized HTS DNA Forensic SNP Analysis

GrigoraSNPs optimizes SNP calling in DNA forensics by improving runtime efficiency for high-throughput sequencing data.

Integrated Biomedical System

The paper introduces an open-source framework for integrating heterogeneous biomedical data from diverse sources to support scalable analysis across personal, community, and population levels.

Accuracy in wrist-worn, sensor-based measurements of heart rate and energy expenditure in a diverse cohort

This study evaluates seven wrist-worn devices for heart rate and energy expenditure accuracy in diverse conditions, finding significant variability and proposing validation standards.