Bernard Thienpont

Mitigating genotype-driven bias improves atlas-scale single-cell DNA methylome profiling

The paper mitigates genotype-driven bias in single-cell DNA methylation analysis by masking variant positions, improving clustering and reducing spurious methylation differences in pooled datasets.

Single-Cell Multimodal Profiling Reveals Maternal Diabetes-Nkx2-5 Interaction in Congenital Heart Disease in a Genetic Model Recapitulating Human Embryopathies

The paper shows that maternal diabetes and Nkx2-5 haploinsufficiency together cause severe cardiac defects in mice, with single-cell multiomic data revealing transcriptional and chromatin changes.

Protein aggregation inhibitors induce divergent transcriptional responses in a cellular model of a-synuclein seeded aggregation

The paper evaluates three Syn aggregation inhibitors in a cellular model of a-synuclein aggregation using single-cell RNA sequencing to identify transcriptional changes and potential druggable pathways.

LipoGrid: A High-Throughput Multi-omics Perturbation Screen Dissects the Genetic Architecture of Lipid Metabolism

LipoGrid quantifies lipidomic and transcriptomic changes across 143 gene knockouts, revealing gene-lipid relationships and compensatory feedback mechanisms.

SubCellSpace: Automated characterization of subcellular mRNA localization patterns in spatial transcriptomics

SubCellSpace identifies and characterizes subcellular mRNA localization patterns in spatial transcriptomics data using a computational framework.

Longitudinal cell-free DNA methylome and fragmentome profiles in health uncover signatures of cell type and demographic origin

The paper analyzes cfDNA methylome and fragmentome profiles from healthy individuals to identify cell-type and demographic signatures influencing cfDNA characteristics.

Maternal Vitamin C Deficiency and Genetic Risk Factors Contribute to Congenital Defects through Dysregulation of DNA Methylation.

This study shows maternal vitamin C deficiency in mice leads to DNA hypermethylation and congenital defects, suggesting VitC supplementation may prevent birth defects.

GiRAFR improves gRNA detection and annotation in single cell CRISPR screens

GiRAFR improves gRNA detection and annotation in single cell CRISPR screens by identifying mutant gRNAs that are dysfunctional and often overlooked by existing tools.

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.

DNA Methylation Repels Binding of HIF Transcription Factors to Maintain Tumour Immunotolerance

The paper shows DNA methylation prevents HIF binding, affecting hypoxia responses and tumour immunotolerance.

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.

A single-cell catalogue of regulatory states in the ageing Drosophila brain

This study creates a single-cell transcriptome catalogue of the Drosophila brain across its lifespan, revealing regulatory erosion and identifying novel neuronal states linked to ageing.