O. Stegle

HIPSD&R-seq enables scalable genomic copy number and transcriptome profiling

HIPSD&R-seq profiles genomic copy number and transcriptomes in thousands of cells, enabling rare clone detection in human cell models and primary tissue.

Spatial and temporal transcriptomics of SHH-medulloblastoma with chromothripsis identifies multiple genetic clones that resist to treatment and lead to relapse

This study uses spatial transcriptomics to analyze chromothriptic medulloblastomas, revealing higher intra-tumour heterogeneity, treatment resistance, and relapse mechanisms through clone-specific features.

Single cell DNA methylation ageing in mouse blood

This study develops a single-cell DNA methylation age predictor using a large multi-omics dataset from mouse blood, revealing epigenetic age heterogeneity and differences across blood cell types.

Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures

This study uses long-read sequencing to analyze medulloblastoma genomes and epigenomes, revealing complex structural variants and methylation patterns.

Single-Cell Atlas of Common Variable Immunodeficiency reveals germinal center-associated epigenetic dysregulation in B cell responses

The paper creates a single-cell atlas of CVID, identifying epigenetic and transcriptional defects in memory B cells and linking them to impaired cell communication.

A spatial multi-omics atlas of the human lung reveals a novel immune cell survival niche

The paper creates a spatial multi-omics lung atlas identifying novel cell types and a survival niche for IgA-secreting plasma cells in submucosal glands.

Single cell multi-omics analysis of chromothriptic medulloblastoma highlights genomic and transcriptomic consequences of genome instability

This study analyzes single-cell multi-omics data from medulloblastoma to explore genomic and transcriptomic impacts of chromothripsis and its subclonal variation.