Diana C.J. Spierings

The landscape of tertiary lymphoid structures in endometrial cancer revealed through harmonized multi-level transcriptomics

This study characterizes tertiary lymphoid structures in endometrial cancer using multi-level transcriptomics, identifying transcriptional signatures and immune cell dynamics linked to ICI response.

BTRR complex deficiency is a driver for genomic instability in Bloom syndrome

This study shows that BTRR complex deficiency increases genomic instability through copy number alterations, enriched at fragile sites, using CRISPR-edited iPSC models.

Tunable DNMT1 degradation reveals cooperation of DNMT1 and DNMT3B in regulating DNA methylation dynamics and genome organization

This study uses tunable DNMT1 degradation to investigate DNA methylation dynamics and genome organization, revealing cooperative roles of DNMT1 and DNMT3B and their impact on heterochromatin and cell fitness.

Sperm DNA damage causes genomic instability in early embryonic development

Sperm DNA damage leads to genomic defects in embryos through chromosome fragmentation and segregation errors.

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

This study compares HiFi and CLR long-read sequencing for human genome assembly, finding HiFi provides better continuity and accuracy in complex regions but not centromeres or segmental duplications.

Multi-platform discovery of haplotype-resolved structural variation in human genomes

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

Double-strand breaks are not the main cause of spontaneous sister chromatid exchange in wild-type yeast cells

This study uses Strand-seq to show that most spontaneous sister chromatid exchanges in yeast are not caused by DNA double-strand breaks.